Other complications, including recurrent pain, acute chest syndrome, stroke, cholelithiasis, priapism, and aseptic necrosis of bone, occur as the disease progresses. These disorders are heterogeneous in severity, and all clinical features are not present in all affected individuals. Homozygous hemoglobin C causes mild hemolytic anemia. Homozygous hemoglobin E causes microcytosis and sometimes mild anemia. Thus, the value of carrier detection is the opportunity to educate families, to test other family members, and to offer genetic counseling.
Confirmatory testing is always necessary to adequately diagnosis a hemoglobin disease or trait.
Some states use a repeat hemoglobin electrophoresis by IEF plus citrate agar. Others use cellulose acetate and citrate agar. In some cases testing of parents may be helpful in clarifying the infant's hemoglobin phenotype. If transfused, repeat test 3-4 mos. after last transfusion. If not transfused, result is normal.