| Remarks |
Clinically affected; hemoglobin Lepore-Baltimore/beta thalassemia; diagnosed at age 4 years; during childhood hemoglobin maintained at 8-9 without transfusions; hemoglobin levels increased to 10-13 as teenager; no pain crises until adulthood when an upper paraspinal mass was detected; hypertension; iron overload; mild pulmonary hypertension; extramedullary hematopoietic mass; extramedullary hematopoiesis of vertebrae with resulting debilitating orthopedic problems; palpable spleen; hemoglobin electrophoresis results: HbA = 0%, HbA2 = 0%, HbF = 76.8%, HbS = 0%, 2 smaller bands comigrating near A2 (11.4% and 10.8%); hemoglobin = 13.2 g/dl; MCV = 67.6; affected brother is GM20481; unaffected parents are GM20482 and GM20483; children are GM20575 and GM20576.
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