Sickle cell anemia as a syndrome: a review of diagnostic features.

Abstract

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.

• Authors: T H Huisman
• Journal: American journal of hematology (Am J Hematol) Vol. 6 Issue 2 Pg. 173-84 ( 1979) ISSN: 0361-8609 [Print] United States
• PMID: 382840 (Publication Type: Journal Article, Review)

Chemical References

• Hemoglobin, Sickle
• Hemoglobin A
• Fetal Hemoglobin

Topics

• Anemia, Sickle Cell (complications, diagnosis, genetics)
• Electrophoresis, Agar Gel
• Electrophoresis, Cellulose Acetate
• Fetal Hemoglobin
• Hemoglobin A
• Hemoglobin, Sickle
• Heterozygote
• Homozygote
• Humans
• Infant, Newborn
• Syndrome
• Thalassemia (complications)