TY - JOUR
T1 - The β-globin promoter -71 C>T mutation is a β+ thalassemic allele
AU - Al Zadjali, Shoaib
AU - Wali, Yasser
AU - Al Lawatiya, Fatma
AU - Gravell, David
AU - Alkindi, Salam
AU - Al Falahi, Kareema
AU - Krishnamoorthy, Rajagopal
AU - Daar, Shahina
PY - 2011/11
Y1 - 2011/11
N2 - A novel β-globin gene promoter (-71 C>T) nucleotide change was recently posted to the HbVar database (ID 2701) without precision on phenotype and ethnicity. We found the same change in compound heterozygosity with Hb S [β6(A3)Glu>Val] in an Omani family with almost equal expression of Hb A and Hb S. This suggested that the -71 C to T mutation may be a mild β-thalassemic allele. Subsequent search found three other independent cases with the same atypical Hb A:Hb S ratio, further confirming the mild thalassemic feature of this mutation. In addition, molecular screening of a set of subjects (with only Hb A) with borderline Hb A 2 or MCV values revealed the presence of -71 C>T change in heterozygous state, altogether assigning the mutation as a mild β + thalassemic allele. In a region such as Oman, where several genetic conditions of the red blood cell coexist (α- and β-thalassemia, Hb S, Hb D, Hb E) in significant frequencies, it is crucial to decipher the molecular basis of these atypical forms of β + thalassemias, especially in a genetic counseling setting.
AB - A novel β-globin gene promoter (-71 C>T) nucleotide change was recently posted to the HbVar database (ID 2701) without precision on phenotype and ethnicity. We found the same change in compound heterozygosity with Hb S [β6(A3)Glu>Val] in an Omani family with almost equal expression of Hb A and Hb S. This suggested that the -71 C to T mutation may be a mild β-thalassemic allele. Subsequent search found three other independent cases with the same atypical Hb A:Hb S ratio, further confirming the mild thalassemic feature of this mutation. In addition, molecular screening of a set of subjects (with only Hb A) with borderline Hb A 2 or MCV values revealed the presence of -71 C>T change in heterozygous state, altogether assigning the mutation as a mild β + thalassemic allele. In a region such as Oman, where several genetic conditions of the red blood cell coexist (α- and β-thalassemia, Hb S, Hb D, Hb E) in significant frequencies, it is crucial to decipher the molecular basis of these atypical forms of β + thalassemias, especially in a genetic counseling setting.
KW - -71 promoter mutation
KW - Hb S
KW - Oman
KW - β+ Thalassemia
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U2 - 10.1111/j.1600-0609.2011.01687.x
DO - 10.1111/j.1600-0609.2011.01687.x
M3 - Article
C2 - 21801233
AN - SCOPUS:80054022145
SN - 0902-4441
VL - 87
SP - 457
EP - 460
JO - European Journal of Haematology
JF - European Journal of Haematology
IS - 5
ER -