Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring.
J Clin Invest
; 73(6): 1673-82, 1984 Jun.
Article
en En
| MEDLINE
| ID: mdl-6725554
ABSTRACT
The elongated alpha-globin chains of hemoglobin Constant Spring (alpha cs chain of HbCS ) are produced in low amounts such that the alpha cs-gene acts as a form of alpha-thalassemia; yet in the homozygous state the pathophysiological effects of this mutant are more severe than in the corresponding conditions that result from alpha-globin gene deletions. In studies designed to examine this discrepancy, we have demonstrated that a significant proportion of red cells produced in an HbCS homozygote has a much reduced red cell life span. Contrary to previous reports, we have been able to demonstrate the expected deficit in alpha-chain production in this condition and have shown that both the cessation of globin chain synthesis in vitro and the destruction of the excess beta-chains occur unusually rapidly. Comparison with various deletion forms of alpha-thalassemia suggests that, in terms of intracellular globin chain precipitates and free beta-chain pool, homozygous HbCS red cells more closely resemble those of HbH disease, with three of the four alpha-genes inactivated, than they do the more comparable alpha-thalassemia carriers with only two genes deleted.
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Base de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
/
Eritrocitos
/
Homocigoto
Idioma:
En
Revista:
J Clin Invest
Año:
1984
Tipo del documento:
Article