| Remarks |
Clinically affected; sickle/delta beta thalassemia; Greek ancestry; poor weight gain and anemia in early childhood; multiple transfusions over lifetime but the need for transfusion significantly declined after splenectomy; history of iron overload due to multiple transfusions; multiple hospitalizations for pain crises; pulmonary hypertension; history of deep vein thrombosis and pulmonary embolism; avascular necrosis; hemoglobin electrophoresis results: HbA = 7.3%, HbA2 = 6.6%, HbF = 21.8%, HbS = 62.7%; hemoglobin = 9.5 g/dl; MCV = 90.2; affected brother is GM20421 |