Biomaterial Database

The varied arrangement of the alpha globin genes in alpha thalassemia and Hb H disease in American blacks. 1980

G B Sancar, and M M Cedeno, and R F Rieder

Both Eco RI and Eco RI x Bam HI restriction endonuclease digests of DNA from black Americans with alpha thalassemia yielded an alpha-specific fragment 4 kb shorter than in normals. In Hb H disease, only the shorter fragment was noted, while in "silent carriers" (alpha-thal 2 trait), both the normal and shorter fragments were detected. One subject with single gene deletions on both homologous chromosomes (alpha-thal 1 phe. A non-deletional form of alpha thalassemia also was discovered.

UI	MeSH Term	Description	Entries
D001741	Black or African American	A person having origins in any of the black racial groups of Africa (https://www.federalregister.gov/documents/1997/10/30/97-28653/revisions-to-the-standards-for-the classification-of-federal-data-on-race-and-ethnicity). In the United States it is used for classification of federal government data on race and ethnicity. Race and ethnicity terms are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies.	African American,African Americans,African-American,Afro-American,Afro-Americans,Black Americans,Blacks,Negroes,African-Americans,Negro,Afro American,Afro Americans,American, African,American, Black,Black American
D004247	DNA	A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).	DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005796	Genes	A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.	Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D005914	Globins	A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.	Globin
D006447	Hemoglobin H	An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
D006455	Hemoglobins, Abnormal	Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.	Abnormal Hemoglobins
D006456	Hemoglobinuria	The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine.
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000569	Americas	The general name for NORTH AMERICA; CENTRAL AMERICA; and SOUTH AMERICA unspecified or combined.	America
D013789	Thalassemia	A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.	Thalassemias