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.

journal_name

Am J Hematol

authors

Huisman TH

doi

10.1002/ajh.2830060210

subject

Has Abstract

pub_date

1979-01-01 00:00:00

pages

173-84

issue

2

eissn

0361-8609

issn

1096-8652

journal_volume

6

pub_type

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