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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Hb P-Nilotic in association with β
o
-thalassemia: cis-mutation of a hemoglobin β
a
chain regulatory determinant?
The Journal of Laboratory and Clinical Medicine, Volume 93, No. 6, Year 1979
Notification
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Description
Hb P-Nilotic which is produced by a hybrid of β and δ genes was found in several members of a Sudanese family, three of whom had an associated β-thalassemia. Chemical analyses confirmed the crossover between positions 22 and 50 of the βδP chain. The Hb P-Nilotic heterozygote had completely normal hematology, but the patients with the Hb P-Nilotic-β-thalassemia condition had moderately severe clinical and hematological abnormalities which were considerably more pronounced than those in the father who had a β-thalassemia heterozygosity. The absolute cellular contents of normal and abnormal non-α chains in these subjects and the results of in vitro chain synthesis analyses suggested that the thalassemia gene in this family is of the βo type and that the βA gene which is present in cis to the βδP gene is incapable of being stimulated when the βo-thalassemia determinant is present in trans. It is proposed that a number of recombination events produced a βδP hybrid gene with duplication of the βA gene in cis as well as a change in an untranscribed strand of DNA which controls the expression of the βA gene. © 1979.
Authors & Co-Authors
Abu‐Sin, A. Y.H.
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Felice, A. E.
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Gravely, M. E.
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Wilson, Jerry B.
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Reese, A. L.
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Lam, H.
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Miller, A.
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Huisman, Titus Hendrik Jan
Sudan, Khartoum
National Health Laboratory Sudan
United States, Augusta
Comprehensive Sickle Cell Center
United States
Va Medical Center
Statistics
Citations: 8
Authors: 8
Affiliations: 3
Identifiers
ISSN:
00222143
Research Areas
Cancer
Genetics And Genomics