Blood. 1979 Dec;54(6):1439-45.

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

Phillips JA 3rd, Scott AF, Smith KD, Young KE, Lightbody KL, Jiji RM, Kazazian HH Jr.

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 alpha-globin genes in individuals with HbH disease. In two of these individuals, the chromosome containing the single alpha gene could have originated by crossing over between mispaired alpha genes, resulting in a deletion of about 4.2 kilobases (kb).

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

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