What disorder exhibits a genetic code that is considered incompatible with life?

Study for the ASCP Specialist in Hematology (SH) Test. Prepare with multiple choice questions, each providing hints and explanations. Boost your readiness for the exam!

Alpha thalassemia major, also known as Hemoglobin Bart’s hydrops fetalis, is a severe form of alpha thalassemia that results from the deletion of all four alpha globin genes. This condition leads to a complete lack of functional alpha globin chains, which is essential for normal hemoglobin (Hb) production. The absence of alpha chains results in the formation of abnormal hemoglobin, predominantly Hemoglobin Bart’s, which cannot effectively carry oxygen.

The genetic makeup associated with alpha thalassemia major is incompatible with life due to the profound anemia and related complications that arise from the absence of functional hemoglobin. Affected fetuses typically present with hydrops fetalis, characterized by swollen tissues and fluid accumulation in multiple fetal compartments. Without medical intervention, such as in utero transfusions, survival is extremely unlikely, and the affected infants usually do not survive the perinatal period.

In contrast, heterozygous alpha thalassemia minor and homozygous alpha thalassemia minor often have milder presentations with some functional alpha globin production, leading to less severe anemia. Hemoglobin H disease, while also serious, generally allows for some survival, as it results from the loss of three out of the

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