sickle cell/thalassemia

I wanted to find out is there any link between thal and sickle cell anemia. Is it possible for a sickle cell carrier to produce a child with thal?

Hello,

Yes, there is a relation between thalassemia and sickle cell anemia.

From:- http://sickle.bwh.harvard.edu/scd_inheritance.html

Do Factors Other Than The Sickle Genes Influence Sickle Cell Disease?
 Sickle cell disease is quite variable in itself. We know of only a few of the factors that contribute to this variability. Some are genetic. Others likely involve environmental influences. One of the most important genetic factors is thalassemia. One form of thalassemia, called b-thalassemia, reduces the production of normal hemoglobin. A person with one normal hemoglobin gene and one thalassemia gene has thalassemia trait (also called thalassemia minor). Should one parent have sickle cell trait and the other have thalassemia trait, any child they conceive has one chance in four of receiving one gene for sickle cell disease and one gene for b-thalassemia (Figure 2). This condition is called sickle b-thalassemia. The severity varies. Some patients with sickle b-thalassemia have a condition as severe as sickle cell disease itself. Others have few and relatively mild problems. The gene for thalassemia is very common among people of Mediterranean origin. The sickle gene also exists in people of Mediterranean origin, although its frequency is much lower than that for thalassemia. People of, say, Greek or Italian background who have a sickle condition most often have sickle b-thalassemia

A sickle carrier cannot produce a child with thal unless a beta thal hemoglobin gene is also present. As Narendra has posted, when sickle and beta thal are combined it can lead to a condition very much like thal major. Because sickle cell is also a mutation of the beta hemoglobin gene, when it is combined with a beta thal gene, it can severely limit the amount of useful hemoglobin produced. However, when combined with alpha thal genes, sickle remains as carrier state. When alpha thal and sickle cell disease (two sickle genes) co-exist, the lack of alpha genes actually acts as a modifier, making the sickle cell disease less severe.

http://sickle.bwh.harvard.edu/sickle_heterogeniety.html

Concurrent alpha-thalassemia has also been examined as a modifier of sickle cell disease severity...the reports of Ballas et al. (1988) and Emburyet al. (1982, 1984 and 1986) agree that concurrent alpha-thalassemia and sickle cell disease produces less severe hemolytic anemia through the action of alpha gene number on HbS concentration, HbS polymer formation, and the frequency of dense cells and ISC.

hi there,
i have thal minor and my husband has a the sickle cell trait and our child has sickle cell anaemia.  so somehow in our case (or all cases like ours??)  the two different traits resulted in sickle cell.  therefore our son did not need blood transfusions but he used to have too may crisis and was hospitalised up to 8 times a year and put on morphine to ease the pain.  only after two years of the chronic pain, did we decide to start transfusing.  so now he is being treated like a thal major- regular blood transfusions and iron chelation 5 nights a week.

cheers
vic

Yes Vic,

Beta thal and sickle cell combined create a condition that can vary from moderate to severe, including transfusion dependency. If you check the link Narenadra provided at http://sickle.bwh.harvard.edu/scd_inheritance.html you will find that both Hb beta thal trait and HbC when combined with the sickle gene, can create a range of conditions.

Sickle cell disease is quite variable in itself. We know of only a few of the factors that contribute to this variability. Some are genetic. Others likely involve environmental influences. One of the most important genetic factors is thalassemia. One form of thalassemia, called b-thalassemia, reduces the production of normal hemoglobin. A person with one normal hemoglobin gene and one thalassemia gene has thalassemia trait (also called thalassemia minor). Should one parent have sickle cell trait and the other have thalassemia trait, any child they conceive has one chance in four of receiving one gene for sickle cell disease and one gene for b-thalassemia (Figure 2). This condition is called sickle b-thalassemia. The severity varies. Some patients with sickle b-thalassemia have a condition as severe as sickle cell disease itself. Others have few and relatively mild problems. The gene for thalassemia is very common among people of Mediterranean origin. The sickle gene also exists in people of Mediterranean origin, although its frequency is much lower than that for thalassemia. People of, say, Greek or Italian background who have a sickle condition most often have sickle b-thalassemia.

 Another hemoglobin disorder that interacts with sickle cell disease is hemoglobin C. The abnormal hemoglobin C protein is relatively harmless.  People with two hemoglobin C genes have a relatively mild clinical condition termed "hemoglobin C disease". When hemoglobin C combines with hemoglobin S, the result is "hemoglobin SC disease". On average, hemoglobin SC disease is milder than sickle cell disease. However, some patients with hemoglobin SC disease have a clinical condition as severe as any with sickle cell disease. The reason for the marked variability in the clinical course of hemoglobin SC disease is unknown. We do know that the tendency of hemoglobin C to produce red cell dehydration is a major reason that the combination of hemoglobins S and C is so problematic.

However, as I mentioned in my previous post, alpha thalassemia is a moderator of sickle cell disease, where both beta genes are sickle genes. I do not know if any research has been done on the combination of alpha and sickle b-thalassemia. I would guess that the existence of alpha thal combined with sickle b-thalassemia would create a more moderate condition.

I know this says Sickle Cell/Thal. I was tested for the Sickle Cell Trait and it came back negative. In fact, that same test came back and said that I have Hemoglobin C and Thal. I was confused because my mom has the SCT. Both sisters and their sons have the trait. My daughter was tested and she was positive for SCT. My daughter's mother and mother's mother are negative for SCT.

I have been tested every 3 to 6 months. I had to see every doctor and was told that my "heart attack" was a result of Acute Chest Syndrome. I thought ACS was found in SCD patients? I produce a little over 34% Hemoglobin C, 62.3% Hemoglobin A and I am very anemic from the Thal. I've argued with doctors to have the test checked, second time and same test came back negative again.

It is possible to have SCT and it be "silent"? Is the Thal making it tough to find? I can tell you, after donating blood 4 times last year, I was in the hospital about 5 times in 3 months. It wasn't until I started getting sick that the tests were done. Now, I am on 325mg iron, 2000 ui Vit D3, double the folic acid and a prescribed multivitamins. Too much iron, I get terribly sick and dizzy. Not enough, I feel like I'm going to pass out. Sometimes I get lethargic and slow. If I told you all my symptoms, you can check them off on several disorders.

Basically, Negative on SCT but gave it to my daughter, positive for HB C and Thal traits....... Most of the SCD symptoms..... Any clue, advice, supporting documents or suggestions on testing?

Dre,

If your child has SCT, as does your mother and other family members, and your wife and her family test negative, then the only source of her SCT gene is the father. Your test showed percentages consistent with HbC trait along with an alpha+ thal trait. (HbC of <36%)
See http://www.orpha.net/data/patho/GB/uk-HbC.pdf  (File is also attached to this post).
If beta thal trait and HbC were both present, the HbA percentage would fall between 0-30%, so it is unlikely that beta thal is involved. Alpha trait is possible, and if your tests are correct, it is likely that others have been misdiagnosed with HbS trait instead of HbC, or vice versa if it is you who have been misdiagnosed, although the repeated testing would seem to confirm your results. Beta thal, sickle cell and HbC all affect the beta globin gene. There are two of these genes, so only 2 out of those 2 can possibly be present at the same time, and you couldn't have one normal gene, which accounts for the 62% HbA, and also have two of those 3. So, if the mother doesn't carry HbS and you carry HbC, then your daughter couldn't have SCT.

There is another possibility and that is the HbC Harlem variant, which is a sickling variant and may be misinterpreted in electrophoresis. A high performance liquid chromatography, HPLC may be of more use in detecting the variant hemoglobin. Because your daughter's diagnosis does not match yours, further testing would be the next step and HPLC would be in order. Since it has been shown that sickle trait carriers can have a crisis at high altitude and also under extreme exertion, there may be some possibility of this with HbC Harlem, also. In the end, DNA testing may be required.

My son is 20 months and is beta+ thal and sickle cell .he has
 taken hydroxyurea and folic acid plus lots of vitamins last 8 months.
He is currently doing fine and much active. We have yet to find out the effects
Of HU on her hb which is 8 to 9 last one year consistently.

But my question is can he should be taken wheat grass? .
HBF was 35.7 % and HBA was at 17.3 % HB S 42.9 and HB A2 4.1 % and no any blood transfusion ever.