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Hemoglobinopathies can be divided into sickle cell disorders and thalassemias.

Sickle cell disorders lead to vasoocclusion, pain, and infarcts in vital organs including the spleen, kidneys, heart, lungs, and brain. Hemoglobin S, the most common variant hemoglobin leading to sickle cell disease, is carried by approximately 1 in 10 African Americans but fewer than 1 in 100 Hispanics or non‐Hispanic whites or Asians.

Alpha‐thalassemia minor causes mild anemia, hemoglobin H disease causes hemolytic anemia with splenomegaly and iron overload, and alpha‐thalassemia major (hemoglobin Bart disease) causes hydrops fetalis with intrauterine fetal demise. Alpha‐thalassemia is more common among individuals of African, Mediterranean, Middle Eastern, and Southeast Asian backgrounds, with carrier status among these groups ranging from 1 in 3 to 1 in 30.

Beta‐thalassemia minor causes mild anemia, while beta‐thalassemia major causes severe anemia and poor growth, resulting in childhood death in the absence of treatment. Beta‐thalassemia is more common among those with Mediterranean, Middle Eastern, Asian, and Indian ancestry and has a carrier frequency as low as 1 in 8 among certain populations.