| Remarks |
Clinically affected; hemoglobin Lepore-Baltimore/beta thalassemia; diagnosed at age 5 years; hemoglobin in single digits at birth; hemoglobin levels of 10-12 in teenage years; asymptomatic until late teens; mild knee pain; splenomegaly; no history of transfusions or infection; extramedullary hematopoietic paraspinal mass; kidney stones; hemoglobin electrophoresis results: HbA = 0%, HbA2 = 0%, HbF = 73.9%, HbS = 0%, 2 smaller bands comigrating near A2 (11.4% and 13.3%); hemoglobin = 9.9 g/dl; MCV = 63.9; affected brother is GM20480; unaffected parents are GM20482, GM20483.
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