Thal & SC

Hi,

Why thal and sickle cell anemia are discussed togather in conferences , do they relate or have any thing in common. There are many kinds of anemias that need transfusion and therefore chelation too. Do thal and SC have anything in common?

manal

The thalassemias and sickle cell disease are the two most common genetic disorders on earth and are both hemoglobinopathies, disorders of the hemoglobin genes. Beta thal and sickle cell are both caused by defects in the beta globin gene and both cause anemia. There is some overlapping of the areas of the world where both are prevalent and both give some protection against malaria. When the two genes are found in one person it is HbS beta thal and can be quite serious, similar to sickle cell disease. Because they do share many things in common, they are often both discussed at conferences that do not exclude focus on other hemoglobinopathies .

hello,

i live in a albania where malaria has been widely diffuse, so in my city there are a lot of Beta thalassemia also in a study i have read lately, there are a lot of people with sickle cell disease in my city, so what test should do one person for diagnosing these hemoglobinopathy?

thank you

A complete blood count (CBC) would discover sickled red blood cells. A hemoglobin electrophoresis should be able to differentiate between sickle carrier and sickle cell disease.

If one have both, you normally say this person has scz. In our organisation we talk about sickle cell disease and not anemia, because that is rare and does not say anything about crises. Disease also not, but that word includes all. Most SCD patients have hbSS (severe case) or hbSC (mild case; if not zero complaints) Both thalassemia and scd are recessive dieseases. There are less transplants done on scd patients then thals. But, and you may corrected me, you see more and more transplants done by young scd patients in the USA.

From a study done in Rotterdam we know there are lots of scd patients. It's even so much that I do not dare to repeat it here. Thal and SCZ has been taken to the Guthrie test since 2007. Sometimes it is still not catched by this. But a Guthrie test won't stop the growing of szd nor thal in the Netherlands. There's almost no pre birth testing, let alone pre marriage testing.

There are indeed more anemias who need transfusion, but, trust me, they are not so well organised or informed as others. Also PNH is treated with rituximab, DBA by prednison and fanconi anemia is just too evi*l. I have been at a Dutch conference for PNH, DBA, AA and more rare. I have heard stories about people who have had more than 50 blood transfusions but never have done any form of chelation.(* and recent lots of research opened and publiced)

So, what I want to say the Thal PLUS SCD are leaders in the world. You are very lucky. I am looking forward to May and I think we wil hear a lot of new developments in the SCD area.