Sickle cell anemia as a syndrome: a review of diagnostic features.
Sickle cell (SS) disease is a complex of various genetic conditions. In some, homozygosity for the beta S gene may be present alone or in combination with the heterozygous or homozygous alpha-thalassemia-2 condition. Such combinations might ameliorate the clinical and hematological condition of the patient. The same may be true for the high levels of Hb F and F-cells observed in many Hb S homozygotes. Howeever, the chemical heterogeneity of Hb F appears not to be related to the clinical status of the Hb S homozygote. Combinations of a Hb S heterozygosity with a heterozygosity for a Hb D-type of variant, for either one of two types of beta-thalassemia, two types of alpha beta- thalassemia, and five types of HPFH are discussed, and data are compared with those obtained for Hb S homozygotes. The use of advanced laboratory procedures and family studies is often necessary for an accurate diagnosis.
D000755:Anemia, Sickle Cell / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D004588:Electrophoresis, Cellulose Acetate; D005319:Fetal Hemoglobin; D006441:Hemoglobin A; D006451:Hemoglobin, Sickle; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D013789:Thalassemia / Q000150:complications
D006451:Hemoglobin, Sickle; D006441:Hemoglobin A; D005319:Fetal Hemoglobin