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Inherited Disorders and Birth Defects




Thanks for your information. Actually I cannot read with English language, but when I read your article, the language is easy for me to understand. Once again, thank you very much. Maybe you can complete this information, for example can you give the explanation about thalassemia, if it is an autosomal recesive gene or a dominant gene, or a intermediate gene?


There are 2 types of thalassemia -- alpha thalassemia and beta thalassemia. For alpha thal, there are 4 potential genes that can be affected. The severity of the disease depends on how many genes are abnormal.

1 gene abnormal = silent carrier = no problems
2 genes abnormal = thal minor or thal trait = mild anemia without problems
3 genes abnormal = Hemoglobin H disease = thal intermedia = significant anemia often requires blood transfusions. Problems do occur
4 genes abnormal = not compatible with life. Baby dies in the womb.

For beta thal, there are 2 genes and it is inherited autosomal recessive. If you have one normal gene and one thalassemia gene then you have thal trait or thal minor. There is only mild anemia and no problems. If you have 2 thal genes, then you cannot make normal red blood cells and you need to get blood transfusions every 2-4 weeks to survive.

Alpha thal is most common in southeast Asia and beta thal is most common in the Mediterranean area.

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Response by:

Anthony D Villella, MD Anthony D Villella, MD
Formerly, Assistant Professor of Pediatrics
School of Medicine
Case Western Reserve University