Longitudinal Study of a Newborn with a Combination of Deletion and Nondeletion α-Thalassemia-2
作者:
R GALANELLO,
M A MELIS,
L MACCIONI,
M PIRASTU,
C CAO,
期刊:
Pediatric Research
(OVID Available online 1984)
卷期:
Volume 18,
issue 2
页码: 158-162
ISSN:0031-3998
年代: 1984
出版商: OVID
数据来源: OVID
摘要:
In this study we have characterized by DNA analysis the molecular basis of an α -thalassemia condition found in an infant, with 16% Hb Bart's at birth, who developed an hematologic picture similar to the α -thalassemia carrier state. Restriction endonuclease analysis and hybridization with α and ζ specific probes have provided strong evidence that this patient carries a genetic compound of deletion a-thalassemia-2 lesion (-α ) and a non-deletion defect {(αα)th} with both a-structural genes intact on chromosome 16. He inherited the deletion a-thalassemia α-2 chromosome (-α) from the father and the chromosome with nondeletion α-thalassemia defect from the mother. Because the deletion of one, two, or three α-globin structural genes is associated with 1-2%, 5-6%, or 25%, Hb Bart's respectively, these findings suggest that the non-deletion chromosome {(αα )th'} contains two α -globin structural genes that are less active than a single a gene (-α).
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