TY - JOUR
T1 - Two novel β‐thalassemia alleles
T2 - Poly A signal (AATAAA→AAAA) and −92 C→T
AU - Kimberland, Michelle L.
AU - Boehm, Corinne D.
AU - Kazazian, Haig H.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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U2 - 10.1002/humu.1380050315
DO - 10.1002/humu.1380050315
M3 - Article
C2 - 7599641
AN - SCOPUS:0028916374
VL - 5
SP - 275
EP - 276
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 3
ER -