The hemoglobin P‐Galveston—Hb‐C condition in members of a black family from South Carolina

Huisman, T. H. J.

doi:10.1016/0014-5793(78)80908-9

Cited by 2 publications

(1 citation statement)

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“…Numerous 0 chain variants have been found in association with Hb S. These "double heterozygotes" fall in three groups [46,47] ; in one the percentages of Hb S and Hb X are the same, in the second the amount of Hb S is about twice that of Hb X, and in the third the amount of Hb X is about twice that of Hb S. These differences are likely due to a posttranslational control mechanism because of differences in affinity of these variant 0 chains for available a chains [8,9] . The effect of variable quantities of Hb S in these persons with the "double heterozygosity" on their clinical and hematological condition may differ considerably and depends also on properties of the variant such as its molecular stability and possible interaction with Hb S in gellation.…”

Section: Related Conditionsmentioning

confidence: 99%

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

Huisman

1979

American J Hematol

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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.

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Section: Related Conditionsmentioning

confidence: 99%