The major syndromes resulting from decreased a-chain synthesis are listed in Table 7-23. a-Thalassemia may present as silent carrier, thalassemia trait, hemoglobin H disease, or hydrops fetalis. Hemoglobin H disease is clinically milder than homozygous P-thalassemia and does not require a hypertransfusion protocol. Hydrops fetalis is not compatible with life and presents with intrauterine or neonatal death, though some babies have survived with fetal packed red blood cell transfusions when antenatal diagnosis was made. These patients should continue on hypertransfusion regimens and be treated as if they had P-thalassemia major, or treated with allogeneic stem cell transplant.
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