Two novel β‐thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

Michelle L. Kimberland, Corinne D. Boehm, Haig H. Kazazian

Research output: Contribution to journalArticlepeer-review

Abstract

β‐Thalassemia (β‐thal) is a hereditary anemia caused by mutations in the β‐globin gene encoding the β‐globin chain of hemoglobin A. In its homozygous form, the disease is characterized by a hemolytic hypochromic anemia, hepatosplenomegaly, skeletal deformation, mongoloid facies, and cardiac enlargement. The heterozygous form is usually asymptomatic but is sometimes associated with moderate anemia and splenomegaly. More than 100 β‐thal mutations have been detected in the β‐globin gene (Kazazian, 1990). Here we report two new β‐thal mutations and observation of another rare allele, which was found previously in a single individual. © 1995 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)275-276
Number of pages2
JournalHuman mutation
Volume5
Issue number3
DOIs
StatePublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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