Difference

what is the difference between homozygous beta thalassemia and hetrozygous beta thalassemia?
because najaf has got homozygous one..........

homozygous beta thalassemia is the beta thalassemia major, while heterozygous - I think- is the thal minor,  when one is just a carrier. I am sure for the homozygous because that's mine, for heterozygous I am not sure 100%. We'll need some confirmation from others.

Lena.

Lena has it correct. Heterozygous beta thalassemia is thal minor, while homozygous is major. Hetero means different and homo means the same. When two genes are both beta thal, it leads to major.

you said "When two genes are both beta thal, it leads to major."
so what is the case with thal intermedia?? then intermedia is caused by one one beta thal gene??
also najaf has not got the symptoms of beta major. in four years she has been trasnfused only three times... her genotype is B+/B+

Thalassemia intermedia can occur in several cases.  One case is have homozygous beta thal and heterozygous alpha thal - where the alpha thal trait decreases the severity of the thalassemia.  Another case is where the patient has homozygous beta thal, however they produce high quantities of fetal hemoglobin to compensate for the lack of adult hg - the fetal hg may be low at certain times and a transfusion may be required.  Also, some mutations are not as severe as others so some amount of hg may be made, making the thalassemia less severe - therefore the patient would be a thal intermedia rather than a major. 


Sharmin

Hello Keep smiling

Thalassemia intermedia is a clinical classification, not a genetic classification.

 Both thal major and thal intermedia have two muted genes. In thal major the genes are severly muted that they are not able to produce red blood cells. While in thal intermedia the two genes are mildly muted allowing to produce little''good'' blood (that is why HB in thal intermedia can be maintained around 6 to 7) that keeps the patient going without transfusion for a while.

So genetically speaking both inermedia and major are the same in terms of the number of muted genes, but they differ in phenotype as thal major is dependant on transfusion while thal intermedia are either transfuion independant or transfuse 2 to 4 times a year or when they get sick (meaning irregular transfuion)

manal

Exactly like Sharmin said it will be determinate by different things.

As you said Keep smiling, Nafja has the genotype ß+/ß+. This means that her chains has an remaining activity, that can lead to thal intermedia. Most of thal major has ß°/ß° or ß°/ß+, some other intermedias shows this genotype ß++/ß+. By knowing about 230 different mutation only for ß thalassemia we can see many differences in phenotype of this disorder.
God Bless
Gabri

so to put all together..............
no specific line can be drawn between thal intermedia and major,,,,,,,,,,,,,
there are a number of factors which determine the condition of a patient such as the type of mutation, the number of mutated genes i.e one or two, the production of haemoglobin etc....
and all these things are linked with each other affecting each other,,,,,,,,,,,,,,

is it so?

what is the possibe minimum lower limit of pre-transfusion level of Hb?

Najaf Hb dropped to 6.5 yesterday.........should we trasnfuse her immediately?
this level has been dropped within 23 days of trasnfusion? isnt it too rapid drop??

Abbas

Abbas,

If we don't want effect child's growth,it is advised that pre transfusion hb should be kept till 9.5 ,not below then that,and this is a difficult decision since Najaf is an intermedia,have you guys decided to put her on regular transfusions? This is a bit fast drop but it also depends on how much blood was transfused last time?Do you know that? And as you said Najaf has gone pale and is not well and gets tired,i would transfuse her if i were you,have you contacted her doctor?

she was transfused almost 230ml last time............i think its too much
and i think it was pure blood not red blood cell packet.......

Abbas

What is Njaf's weight? and why was she transfused whole blood she only needs red blood cells and with a filter.Transfusion volume should be 15 ml/kg of body weight .

Zaini.

Actually last time when she was transfused she was not diagonised as thalassemia yet so whole blood was transfused,her weight is 15 kg,
another thing, u said if we had decided to put her on regular trasnfusions? is it matter? i mean if we say "no" then what alternative we have?
by the way, we will transfuse her regularly to avoid retardation in growth........

Abbas

Some intermedias do survive with out transfusions,or may be occasional transfusions,thats why i that question,i am personally in favor of regular transfusion so that growth won't be effected,but once you start transfusion,keep a look out for ferritin.

The point of transfusing a child regularly is keeping his/her growth normal,and it would be possible if you keep her pre transfusion hb to 9.5 and not let it go below that,so 6.5 is pretty below that,once you'll start transfusing regularly,a pattern would establish and most of the time you would know how many weeks she'll be able to hold her hb between transfusions.When my daughter starting transfusing,we didn't know that its not good to let her hb go below 9.5,doctor told us that hb of 8 is the limit,so we used to go at 6 weeks,but when we came to know that its not good,we changed the pattern,now we go every fourth week,but in between a period of time came when we had to go every three weeks,because her hb used to go low,i don't know what was the reason,but we were able to change that pattern to 4 weeks again after we started carao fruit syrup.You can read about carao in this thread

http://www.thalassemiapatientsandfriends.com/index.php?topic=1259.0;highlight=carao

http://www.thalassemiapatientsandfriends.com/index.php?topic=1791.0

Hope this helps

Zaini.

Thanks Aapi.....

so what is the medical name of Carao syrup?? i mean i can get it by any medical store by saying "Carao Syrup"