Update on the Cairo Conference

Dear all

Hope everyone is doing well. As you all know i attended the conference and it was great. There were 32 lectures covering all the issues related to thal and sickle cell aneimia in addition to the last session which was the doctor/parent session.

This is a chance to thank Prof. El Beshlawy (Chairman of ETA) for her huge efforts in organizing this confernce and giving us the chance to get to know all this information. The lectures are supposed to be uploaded on the ETA site later in this year, so i will  tell you as soon as they are there to have a look at them as they are really great. It is difficult to upload them on the site because of the size.

Some points regarding the lecturs:

Cardiac problems in Thalassemia ,Diagnosis, Prevention And Treatment .
John Porter, Professor and Consultant Haematology, University College London

This lecture was given by Dr. P.Telfer (UK) as Dr. Porter couldn't come on the last minute. It was a great one but the most imprtant point that caught my attention in this lecture is it showed the lack of correlation between liver and cardiac iron. In the lecture, many slides showed that many patients have iron in the heart and don't have iron over load in the liver and vice versa. So this means that heart examination (T2*) is important to check iron overload as it can exist without having ironoverload on the liver first.


Iron overload and chelation in Thalassemia intermedia
Ali Taher, MD
American University of Beirut Medical Center
Professor of Medicine
Hematology & Oncology


This lecture was interesting and annoying to me as Dr. Ali Taher said that serum ferritin in thal intermedia is not an accurate indicator of iron overload in patients and only Liver iron  concentration (LIC) is the important one whether through feriscan or liver biopsy.  This is not the case in majors as he showed different studies done in lebanon showing that exactly the same level of iron down by LIC methods done in both thal major and thal intermedia, but the serum ferritin was far less in intermeia than in major.

The conclusion from both articles stressed the elevated concentrations of liver iron despite slight increase in serum ferritin in thalassemia intermedia.

Accordingly, we have set up a study to determine the extent of iron overload in 80 randomly selected TI patients in Lebanon. Following informed consent and extensive relevant medical history review, LIC using R2 MRI, SF, and other Iron markers were measured. Also Doppler echocardiography was done to detect pulmonary hypertension and left ventricular ejection fraction...

In comparison with data obtained from a randomly selected group of patients with TM treated at the centre, SF levels were seen to be significantly lower, while the mean LIC values were similar in both groups (Figure).   

I remember one of th examples in his study showing that a LIC showing 7.4mg in both TI & TM  patients and the serum Ferritin was 500 in the intermedia and above 1200 in thal major. So he is  proving that ferritin is not an accurate indicator  for ironoverload in TI especially who have undergone splenctomy.  His concern was that internal organs could be damaged and the patient is not aware.
His study is including NON transfused patients as he said that ''Iron accumulation in TI patients has been estimated to occur at a rate of 1-3.5 gm/yr and occurs mostly as a result of increased gut iron absorption secondary to chronic anemia. Increased iron burden is partly responsible for the occurrence of complications that occur in this disease such as liver fibrosis, heart failure and pulmonary hypertension; therefore, close and accurate monitoring of total body iron is necessary for ultimate proper chelation therapy.''

This may result in delayed chelation therapy, and expose patients to the morbidity and mortality risks associated with iron overload. Disease-specific management approaches are therefore required in patients with TI, which should include regular assessments of LIC, ideally by non-invasive R2* MRI.

When i asked him concerning my son he siad that an LIC should be done at the age of 10 if he remains non transfused.


 To be continued ......

manal

Thank-you Manal.
You are one of a kind exceptionally loyal and faithfull to our cause "finding a cure for thal "research and learning.
We all are so blessed, because of your devotion.you make it sound effortless.May you be bless with all good things in life.
I hope you have a nice Mothers' day

I'm so glad we cross path

Much love Kathy

... the rest of the comments:

Inducers of production of HbF and HbA in beta-thalassemia: what is new
Roberto Gambari
Department of Biochemistry and Molecular Biology, University of Ferrara

Actually this lecture was quiet technical and very scientific, but it mainly talked about 3 main points:
1-  induction of fetal HB through natural products like resveratrol, 5,7-dimethoxycoumarin and bergapten
2-  Induction of HB A through gene therapy and the importance if accompanying it with HB F inducers as their data suggest that a combination of HbF induction and restoration of HbA production following gene therapy could be beneficial.
3-  Functional correction of the beta°39-thalassemia mutation. ''This is a very interesting field of investigation. In beta°39-thalassemia the CAG (Gln) codon is mutated to the UAG stop codon, leading to premature translation termination and to mRNA destabilization. Interestingly, recent papers have described drugs designed and produced for suppressing premature termination, inducing a ribosomal read-through of premature, but not normal termination codons. We have demonstrated that treatment of erythroid precursor cells from beta°39-thalassemia patients with the aminoglycoside geneticin leads to production of adult beta-globin. This approach might be a new strategy to induce HbA in beta°39-thalassemia patients. ''



Later on that day, i had a talk with Professor Gambari and i asked him whether resveratrol increases the fetal HB on all patients or not necessarily. He answered me saying that he examines it on cells in his lab and found that it induces the fetal Hb in 70%.  I told him my findings regarding using it and the change in percentage of fetal Hb of my son before and after it and the duration of it.

I even mentioned that i have many friends on this site who are using it or are willing to use it. He seemed very interested and he gave me his contact number and email and requested that i can  ask the people who use it on this site to work togather with him as he need more information about us.

He wants me to make a list of the patients using it  including my son with all their medical details and we report to him our findings. He said that he really does not have any time to join the site but he is interested in our expierence. He said that we can exchnage benefits. We report to him our findings and he can also set controls since anyway we are using it and since it is an antioxidant any way.  He can help us by sending him our blood samples by DHL for example at his own expense so he can work on our cells directly on his lab to see what he finds what works better on them.

Actually i find this very interesting since some of us are using resveratrol in all cases. So if any one is interested in this PM me all the details of the hB f levels of his case before and after using it and if you are transfusion dependent or not and any other details  as i told Professor Gambari that i will email him back in a day or two. So i will wait for your feedback on this issue.



'Retrodifferentiation; A Process of an Autologous Somatic Cell Reprogramming to a Pluripotent Stem Cell State and its Application in Haematological diseases'
Dr. Ilham Saleh Abuljadayel

In this lecture, Dr. elham dicussed her findings on aplastic anemia patients. After this procedure and all along the follow up blood tests, she recognized that fetal Hb was switched on in an accumaltive trend. This trend stopped at the 6th month after the treatment.  From this she said that it helps in thal major patients as they don't transfuse for 6 months. Though this is not permenat but she counts it as positive thing because transfusing every six month is better than monthly.  The last aplastic anemia patient that has gone through this procedure was in 2004 and he is doing fine till now.

So concerning thal major, it is up to six month with no transfusion and in thal intermedia patients, she has worked in two and they have been free from transfusion for the last two years and she does not know until when it will last. 

Concerning whether the repeated treatment could prolong the time of stablising of Hb , she does not know because untill now she did not repeat the treatment for the same person who has thal.

In the lecture she showed slides of patients before and after treatment  who suffered from differnet skin diseases, diabetic foot, pictures of herself showing eye wrinkles as she has gone through this process personally because she had neutropenia and others issues.

She claims that here are no side effects and that the only people who can not  do this process are the ones that has  protein S or C that cause cogulation.


After the lecture i personaly talked to her and asked her why these stem cells aren't taken from prepheral blood cells instead of the rtodiffernation process of WBCs and whether these stem cells are programed to target the gamma genes in particular or they are just released in the blood circulation?  Anywy she said that she uses the WBCs ecause usually she needs billions of stem cellls and second she commented that the stem cells that is infused have a tremendous positive effect on all the body including growth, osteioporosis, iron overload, cardio,..... but when i asked her about the hb level which is the most important thing to me, she said that it could be maintained between 7 and 8. 

Actually i was disappointed as i thought that the levels could be much higher. Actually there was a mother who has a 4 year non transfused thal intermedia child who already is stablising at 7.5 and she wanted so much to go through this procedure,but now she finds it useless for her, but the doctr told her that it still can help him in his growth or any other complications.  But i don't think that this is actually the only thing we are looking for.

Later next day, in the parent/ doctor session, it was announced that three Egyptian children were has gone through retrodiffernation ( two girls and one boy). One of the girls attended. She is 11 years old, but look much younger. She is thal intermedia but transfusing when her HB drops to 5 or 6. She has done splenctomy, has virus C and osteoperosis. She has done it from exactly 45 days. Now they say that she has increased a little bit in height, don't remember how much exactly, the osteoprosis is much better and the HB is stablising at 7.9

My personal opinion is that this case can really benefit from this procedure as at least she won't transfuse for a while and had some positive effect on growth but this wouldn't be the case for every case. Anyway i have got her contact so i can follow up as they say it is recently done and more positive things could happen later.

Dr. Elham mentioned that she is very much interested in doing this procedure using the stem cells of the mother or the father ( haploidentical transplant ) as this should lead to a complete cure but she will not use a chemotherpy at all and when i asked her about the GVHD, she said that the chemo is the thing the worsen everything because it kills all body,( actually i don't get this part.

She is waiting to try this on any desperate patient who has no other solution except this and is willing to do it, again we are lab rats!!!!!!!!!!!

Anyway, this procedure is done In Jordan and Saudi Arabia with a cost of  $15000 (by the way, last year it was for $ 6000 and she said the more there are cases the lower will be the price!!!!!!)
It take sjust one day at the hospital.


Time for rest

To be continued..........

manal

Thank you so much dear Kathy. You know when i go to conferences and understand anything, that is because of this site . The sharing of every member here opens new prespectives and different issues and keep us updated.  I  don't know how life could be or how i can benefit my son if you were not part of my life. Thank you
manal

Hi Manal
This is really good. Were you jotting down everything or you have it recorded on tape or do you just have a terrific memory. A big thankyou for your efforts and waiting for more
Maha

Hi Manal,

Thank you for your valuable contributions!

You are most welcomed Maha and Sajid, hope it could be of benefit to any one.

Back to the conference:

* I talked with Professor Ali Taher about the clinical trails of Hemaquest ( Dr. Suzane Perrine ) and he said that it will start after four months and gave me his contacts to be updated about the trail and to know when they will start it on children.

* In the conference, it was the first time to see a lot of patients as usually when I go to the clinic, i never meet anyone, but unfortunatly there were many families with children with all ages and also teens who from the first look you can tell that they are poorly treated. Latest statistics showed that in Egypt, up to 13% of the population are carriers and the recorded patients in different centers in Egypt are around 10,000 ( these are the recorede only ). It is estimated that every year 1000 thal major babies are born.

It is heart aching because, most of the patients are really poor and there are no resources. i can not forget an 18 years girl who was complaining that she can not find blood and when her father get donors it is difficult to have it too as they are asked to do blood test for blood saftey and they are poor to pay.
I heard many sad stories, it is really too hard and harch.

* In the parent/doctor session, Mr. Panos the president of TIF gave a very good speech about thal and it shouldn't conquer us but as i told many patients can't even find blood so the speech was a kind of luxury

* One of the things that really touched my heart was the tears that came in Mr. Panos eyes when i gave him my condolences in the memory of his son who had thal and left us on the 8th of May. That is why the international day of thal is on the 8th of May. May his soul rest in peace. It was the tears of the father that he couldn't hide

* I asked Dr. A.Eleftheriou (TIF), if there is a possibility of offering any sponsorship for Egyptian patients to attend the Singapore conerence as there is no sponsorship is offered her in Egypt from any assosiation or company at all. She said that it is possible and i have to send a letter requesting this to my assosiation and they could help me in this. So pray for me that this could happen, i hope so.

* Dear friend Kathy and Vic, most of the lectures about sickle cell anemia were really tough for me to understand especially that i am not much familiar with SCA so i am really sorry that i didn't include points about them, but when the abstracts and the lectures are ready on the ETA site, i will inform you as the could be of some benefits. There was an excellent lecture by Dr. Paul Telfer about new protocols in the ''Sickle cell pain management'' which i am sure you will be interested in


Those were bits and pieces from the conference, but there is some thing that i wanted to ask about  concerning a lecture on ''Coagulophathy in thalassemia'' as it was a really organized and good one but couldn't find the doctor in the break time but i got his address and will make an appointment with him as i have many things ai want to ask about.

Find below the list of  the other lectures given in the conference:

*EMBRYONIC AND MESENCHYMAL STEM CELLS Institute of Oncology Hacettepe University , Ankara – Turkey
IN  REGENERATIVE MEDICINE
Emin Kansu ,M.D.,FACP

*HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR THALASSEMIA
Gaziev Javid
Mediterranean Institute of Hematology, International Center for Transplantation in Thalassemia and Sickle Cell Anemia. Policlinico Tor Vergata, Rome, Italy


*PURIFIED T DEPLETED PERIPHERAL BLOOD AND BONE MARROW CD34 TRANSPLANTATION FROM HAPLOIDENTICAL MOTHER TO CHILD WITH THALASSEMIASodani P, Isgrò A, Erer B, Gaziev J, Polchi P, Marziali M. Roveda A, Gallucci C, De Angelis G, Paciaroni K, Simone M, Alfieri C, Montuoro A, Adorno G*, Lanti A*, Isacchi G°, Zinno F° and Lucarelli G.


*Stem Cells in Hemoglobinopathies and Hematological Malignancies: A Jordan University Hospital Experience
Adeeb Al-Zoubi1, Mohammed El-Khateeb2, Abdallah Aweidi Al-Abbadi2


*Deferasirox ( EXJADE) The new oral Iron Chelator :Experience of Egypt

*Survival trends in thalassaemia major - The UK & Cypriot experiencePaul Telfer

*Advances in approaches for non-invasive prenatal diagnosis (NIPD) and preimplantation genetic diagnosis (PGD) of thalassemia.Dr. Joanne Traeger-Synodinos, Assistant Professor of Genetics, Laboratory of Medical Genetics, Athens

*Fighting Thalassemia; Bahrain's ExperiencesProf Faisal Alnasir FPC,MICGP,FRCGP,PhD
Professor of Family Medicine
Vice President
Arabian Gulf University
Bahrain


*Chorionic Villous sampling outcome in prenatal diagnosis of Thalassemia in Egypt


*RISK OF INFECTION THROUGH BLOOD TRANSFUSIONDr. Androulla Eleftheriou (Ph.D) Virologist – TIF Executive Director


*Growth and puberty in Thalassaemia
Nicos Skordis, MD, Andreas Kyriakou, MD
Pediatric Endocrine Unit, Makarios Hospital, Nicosia, Cyprus


*Current Understanding and Management of Sickle Cell Disease
Adlette Inati Khoriaty, M D
Children's Center for Cancer and Blood Diseases
Rafik Hariri University Hospital, Beirut, Lebanon


*PREVALENCE OF BONE DISEASE IN SICKLE CELL ANEMIA:  SINGLE INSTITUTE EXPERIENCE: JEDDAH KINGDOM OF SAUDI ARABIA.
Dr. Soad Khalil Al-Jaouni, FRCPC
Hematology Department, King Abdulaziz University Hospital, College of Medicine, Jeddah Kingdom of Saudi Arabia.


*Fetal Medicine: A new science for the new millennium

*The Effect Of Storage On The Recovery And Expansion Of Umbilical Cord Blood Hematopoietic Stem Cells


*RENAL FUNCTION IN ADULT Hb-H DISEASE
Leena Ong-ajyooth1, Sompong Ong-ajyooth2, Pensri Pootrakul1, Duangporn Chuawattana1, Sompong Liammongkolkul2, Surin Khanyok2
1Department of Medicine, 2Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok

*Controversies in management of Thalassemia Intermedia: Experience from Hb Dhofar.
Yasser Wali MD FRCPCH, Shahina Daar MD.
College of Medicine, Sultan Qaboos University, Oman


*LIFE THREATENING  INFECTIONS IN THALASSEMIA  ( This is very good lecture for patients who have gone through splenctomy, it tells you exactly what you should do in case of infection, immunizationas and others ......)PROFESSOR AZZA ABDEL GAWAD TANTAWY
PROFESSOR OF PEDIATRICS AND PEDIATRIC HEMATOLOGY
AIN SHAMS UNIVERSITY


*Abnormal glucose tolerance in beta-thalassemia patients: possible risk factors

*Opportunist protozoa in patients with β thalassaemia on regular blood transfusion.

*Erythrocyte Phosphatidylserine Exposure in Sickle cell Disease Using Fluorecently-Labelled Annexin V: Relationship to Coagulation Activation and Fetal Hemoglobin

*Haemochromatosis gene mutation H63D is a risk factor for iron overload in Egyptian beta- thalassemic children


*N-TERMINAL PRO-BRAIN NATRIURETIC PEPTIDE LEVEL AS A NOVAL DIAGNOSTIC MARKER OF PULMONARY HYPERTENSION IN SICKLE CELL DISEASE


That is all for the conference, hope i didn't forget anything, wish all the best

Manal

Manal,

This was a great group of topics addressed by many of the top researchers and doctors in the world. Thank you for the updates and I hope all this information will soon be available online.

Your point about poverty and lack of treatment is an extremely important one. This cannot be stressed enough. You mentioned Egypt with a carrier rate of 13%. Pakistan is 6 %. India, 3 %, which translates to 40 million carriers in India, alone. Thailand is 30%. Yes, 30%. The common factor is that each of these countries is in the same position in terms of funding and realistically, we must admit that most majors are not getting the care they need. In India, it is estimated that 10,000 children die every year from lack of treatment for thalassemia.

The priorities of the human race are just plain wrong. My own country is the biggest embarrassment of all. The military budget of the US is bigger than the military budgets of the entire rest of the world combined. And why? So we can be prepared to face irrational fears? Not really. That is just the excuse that is used to justify it to my gullible countrymen. We're fighting in Iraq so we don't have to fight "them" in the streets of the US. Really? People do actually believe this nonsense. My own brother has told me this, but he also told me the Muslims would kill me if I went to Dubai and the Maldives. Somehow, I escaped death. This foolishness needs to end if we are ever to do the things this world really needs. The US was in no danger from Iraq, but Iraq does have a lot of oil and the vice president's company landed some massive contracts because we went to war. When will we wake up and say dammit! No more!

Not only does it pain me to know how many people on this earth cannot get even basic medical care but it pains me greatly to know that people supposedly acting on my behalf are working hard to make this world a worse place. And it really pains me to see how my countrymen think of people from other countries. Humanity needs to wake up while we still have a chance to change. Humanity is its own worst enemy.

Thalassemia is just one area that is severely underfunded. How much research could be done with the money used to build one bomber plane? That alone would fund research into gene therapy and HbF inducers for many years to come. Can we build fewer weapons and use the money to solve the problems confronting real people? Can we choose life over death? Charity over greed? Each of us in our own lives needs to pledge to never fall for the lies of politicians who lead us down the paths of fear and destruction. Each of us needs to wake up and see our fellow humans as our brothers and sisters. We can never become complacent as long as one child goes wanting.

I'm sorry to get off topic but Manal's words are felt deeply within my soul. We have to do better for these people.

For some perspective, the cost of one B-1 bomber plane is around $300 million dollars. I would love to see this money divided between Dr Sadelain and Dr Perrine. I would love to see another plane not built and the money be entrusted to Dr Vichinsky so he could continue expanding thal care in India. And so on. Hopefully our next president will have a soul.

Manal,

Thank you for all of this valuable information.

Sharmin

Andy, actually i don't know what to say, but all you said is true and the reality is more harsh than you can imagine. There are many examples that if you can see will let tears come in your eyes but i think that if there is something right to happen it should start from here, from the people's will to receive what is good for them . I know that it is difficult in a community that lacks education, money and resources and above all ignorance but it may be here comes the role of the other part of the population who are being educated, to do their role in trying to educate and increase awarness.

You know why Andy i really don't want to transfuse my son, because i am so scared from blood here and supposedly i am from an upper middle class who have excellent acess to all medical care. Blood is supposed to be screened and it is, but in spite of this you can find a little young girl of 11 years old who got Virus C from blood in one of the very good hospital and when is this? It is in the year 2008 where you have Virus C tests. Some hospitals just buy blood from people, you know those people have certain well known cafe that they sit on and their only work is to donate blood, you know how often? Everyday, imagine what is the quality of donated blood, and how fast they themselves will die?  We had a well known case of corruption where the blood bags had bacteria in them and so they contaminated the donated blood. Though this case was closed and guy was not condemed but i don't have any trust in this brand any more. there are many examples as i told, so there are many thing that burden your heart in addition to the disease it self and this is the case with me the educated one so what about the others?? and what about the patients who dream of complying to the tratment but just can not afford it ?? 

I don't intend to show the dark side as of course there are still good blood and still there are some ways to make sure that you receive a good one and good doctors and merciful hearts but my point is that when your soul is cheap to your rulers so it is not strange to be that cheap for the first world countries

It is a big and complicated

It is not your goverment only that contributes to this but ours too plays the same role. Corruption is dragging the countries to the extent that your basic right is a luxury. Anyway it is a long story that won't end and you can not tell from where it had started

By the way Andy, don't be so optimistic with the new president as i believe that this is a planned policy that is going to take place regardless of who is the president. May God help us all.



Sharmin, you are welcomed my friend

manal

Manal,

The stark reality hit me strongly on my trips to India. The amount of people living in poverty is staggering. Every time I saw people living in shacks by the river, I had the same thought. "How many thals are born to families like this, who can't be assured of a meal let alone medical care?" In many places, thal children are left to die. No care is given and the parents just give up on that child because there is no choice. It's heart-breaking to think of this. In our group, we are exposed to those who have at least enough resources to be able to read and get online. We don't see the vast amount of patients who get little or no help. Think about this. 30% of Thais carry a thal gene. In fact, there are over 100 known beta thal mutations in Thailand. Alpha thalassemia is also very common. There must be a huge thal problem there, yet how many members do we have from Thailand? I believe that the majority of thal majors born in this world, do not live more than a few years. The scope of these blood disorders is slowly becoming known and it's frightening. The task of creating screening programs on an international level seems immense but what happens if this isn't accomplished? Once again funding is a huge issue but without money, the joint efforts of WHO and TIF will make only a small dent in the problem.

I have no illusions about politics. Even if somehow we got a president who really wanted to change things, that person would be greatly hindered by the mess left behind by the current administration and the monstrous debt that many generations will be paying off. The system itself is so entrenched that real change may be impossible. Put this altogether with a corporate media that selects who are candidates will be, and there isn't much to get excited about. However, I do think we need a change and electing another guy who says let's keep doing what we're doing now is not the answer.

Dear Manal .
Just your thought of us is good enough for me ,thank-you for all the informations,I would have never been able to retained and shared all these good info the way you have.You are a very clever young lady

If only the Earth wealth was shared equally, it could solve many problems.Unfortunately there are too much Greed and poor jugdements in most societies.
What a Shame, we don't have the power it needed to help those most in need of help.

Still, on a smaller scale, individually, we all can make a difference by doing what we can as minute as it might be.
Kathy

thank you Kathy so much and you are most welcomed. Kathy, all of you are part of my family and i care about each one of you so much

manal

Well said everyone,

Andy you saw poverty in India,You are most welcome to Pakistan,i've personally met people who can not afford a single transfusion,and who think that their kids are definitely gonna die whatever they do,and Manal is right,nothing is gonna change who ever is elected.neither in Pakistan nor in US.

ZAINI.