A molecular basis for hemoglobin-H disease in American blacks

J. A. Phillips; A. F. Scott; K. D. Smith; K. E. Young; K. L. Lightbody; R. M. Jiji; H. H. Kazazian

A molecular basis for hemoglobin-H disease in American blacks

J. A. Phillips, A. F. Scott, K. D. Smith, K. E. Young, K. L. Lightbody, R. M. Jiji, H. H. Kazazian

School of Medicine

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

We have applied gene counting and restriction endonuclease mapping techniques to the study of two American black families in which there were one or more cases of HbH disease. We found deletions of three of the four normal α-globin genes in individuals with HbH disease. In two of these individuals, the chromosome containing the single α gene could have originated by crossing over between mispaired α genes, resulting in a deletion of about 4.2 kilobases (kb).

Original language	English (US)
Pages (from-to)	1439-1445
Number of pages	7
Journal	Blood
Volume	54
Issue number	6
State	Published - 1979

ASJC Scopus subject areas

Biochemistry
Immunology
Hematology
Cell Biology

Cite this

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title = "A molecular basis for hemoglobin-H disease in American blacks",

abstract = "We have applied gene counting and restriction endonuclease mapping techniques to the study of two American black families in which there were one or more cases of HbH disease. We found deletions of three of the four normal α-globin genes in individuals with HbH disease. In two of these individuals, the chromosome containing the single α gene could have originated by crossing over between mispaired α genes, resulting in a deletion of about 4.2 kilobases (kb).",

author = "Phillips, {J. A.} and Scott, {A. F.} and Smith, {K. D.} and Young, {K. E.} and Lightbody, {K. L.} and Jiji, {R. M.} and Kazazian, {H. H.}",

year = "1979",

language = "English (US)",

volume = "54",

pages = "1439--1445",

journal = "Blood",

issn = "0006-4971",

publisher = "American Society of Hematology",

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T1 - A molecular basis for hemoglobin-H disease in American blacks

AU - Phillips, J. A.

AU - Scott, A. F.

AU - Smith, K. D.

AU - Young, K. E.

AU - Lightbody, K. L.

AU - Jiji, R. M.

AU - Kazazian, H. H.

PY - 1979

Y1 - 1979

N2 - We have applied gene counting and restriction endonuclease mapping techniques to the study of two American black families in which there were one or more cases of HbH disease. We found deletions of three of the four normal α-globin genes in individuals with HbH disease. In two of these individuals, the chromosome containing the single α gene could have originated by crossing over between mispaired α genes, resulting in a deletion of about 4.2 kilobases (kb).

AB - We have applied gene counting and restriction endonuclease mapping techniques to the study of two American black families in which there were one or more cases of HbH disease. We found deletions of three of the four normal α-globin genes in individuals with HbH disease. In two of these individuals, the chromosome containing the single α gene could have originated by crossing over between mispaired α genes, resulting in a deletion of about 4.2 kilobases (kb).

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M3 - Article

C2 - 508947

AN - SCOPUS:0018696611

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VL - 54

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EP - 1445

JO - Blood

JF - Blood

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ER -

A molecular basis for hemoglobin-H disease in American blacks

Abstract

ASJC Scopus subject areas

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