TY - JOUR
T1 - Hemoglobin h disease in two turkish females and one iranian newborn
AU - Aksoy, M.
AU - Kutlar, Abdullah
AU - Kutlar, Ferdane
AU - Harano, T.
AU - Chen, S. S.
AU - Huisman, T. H.J.
N1 - Funding Information:
The authors are indebted to B.L. Abraham for his help in the study of Family N. This study was supported by USPHS Research Grants HLB-05168 and HLB-15158. This is contribution /I0873 of the Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, Georgia.
PY - 1985
Y1 - 1985
N2 - Recent advances in molecular biology has resulted in the characterization of different forms of αthalassemia (αthal). Deletion, or occasionally dysfunction, of one or both α globin genes, which are located on the short arm of chromosome 16 (l), will lead to an α chain deficiency with variable alterations in red cell indices. αThal-2 or αalpha;alpha; results from deletion of one of the two a globin genes, i.e. either the leftward or 4.2 kb deletion involving the α2 globin gene or the rightward or 3.7 kb deletion which involves the 3' segment of the α2 gene, the 5 ' segment of the a1 gene and intergenic DNA. αThal-1 or αalpha; results from larger deletions involving segments of DNA which contain both the α2 globin gene and (part of) the α1 globin gene. The various types are due to misalignment between two strands of DNA from two separate chromosomes during meiosis followed by an unequal crossover generating chromosomes with a single (or no) functional a globin gene or with triplicated a globin genes (2, and references quoted). Appropriate combinations of these chromosomes will lead to an αthal-2 homozygosity (αalpha; to Hb H disease (-alpha; to hydrops fetalis (- - / - -), and to genetic conditions such as those characterized by the presence of five (αalpha;alpha;alpha;alpha; four (αalpha;alpha;alpha; or three (αalpha;alpha;minus; a globin genes (2,3,4).
AB - Recent advances in molecular biology has resulted in the characterization of different forms of αthalassemia (αthal). Deletion, or occasionally dysfunction, of one or both α globin genes, which are located on the short arm of chromosome 16 (l), will lead to an α chain deficiency with variable alterations in red cell indices. αThal-2 or αalpha;alpha; results from deletion of one of the two a globin genes, i.e. either the leftward or 4.2 kb deletion involving the α2 globin gene or the rightward or 3.7 kb deletion which involves the 3' segment of the α2 gene, the 5 ' segment of the a1 gene and intergenic DNA. αThal-1 or αalpha; results from larger deletions involving segments of DNA which contain both the α2 globin gene and (part of) the α1 globin gene. The various types are due to misalignment between two strands of DNA from two separate chromosomes during meiosis followed by an unequal crossover generating chromosomes with a single (or no) functional a globin gene or with triplicated a globin genes (2, and references quoted). Appropriate combinations of these chromosomes will lead to an αthal-2 homozygosity (αalpha; to Hb H disease (-alpha; to hydrops fetalis (- - / - -), and to genetic conditions such as those characterized by the presence of five (αalpha;alpha;alpha;alpha; four (αalpha;alpha;alpha; or three (αalpha;alpha;minus; a globin genes (2,3,4).
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U2 - 10.3109/03630268508997012
DO - 10.3109/03630268508997012
M3 - Article
C2 - 3000989
AN - SCOPUS:0021926995
SN - 0363-0269
VL - 9
SP - 373
EP - 384
JO - Hemoglobin
JF - Hemoglobin
IS - 4
ER -