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A new deletional α‐thalassemia detected in yemenites with hemoglobin H disease
Author(s) -
Shalmon Lea,
Kirschmann Chava,
Zaizov Rina
Publication year - 1994
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830450302
Subject(s) - pseudogene , hypervariable region , gene , genetics , biology , thalassemia , globin , hemoglobinopathy , gene cluster , hemoglobin , microbiology and biotechnology , hemolytic anemia , immunology , genome , biochemistry
Abstract A new large deletion from the human α‐giobin gene cluster is characterized. It involves at least 39 kb and includes the two α‐giobin genes, the ϑ 1‐gene, all the pseudogenes, and the two hypervariable regions (HVRs), interzeta‐HVR and α‐globin 3′HVR. The conserved ζ‐globin gene has been identified in various restriction fragments of abnormal size. The new deletion was found in four unrelated Israeli patients with Hb H disease, all orlginating in Yemen, and has been designated ‐ ‐ YEM . It is the only two‐gene deletion identified in this ethnic group. © 1994 Wiley‐Liss, Inc.