A promoter mutation, C → T at position ‐92, leading to silent /3‐thalassaemia | Zendy

ROSATELLI MARIA CRISTINA | Zendy; FAA VALERIA | Zendy; MELONI ALESSANDRA | Zendy; FIORENZA FLAVIA | Zendy; GALANELLO RENZO | Zendy; GASPERINI DANIELA | Zendy; AMENDOLA GIOVANNI | Zendy; CAO ANTONIO | Zendy

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A promoter mutation, C → T at position ‐92, leading to silent /3‐thalassaemia

Author(s) -

ROSATELLI MARIA CRISTINA,

FAA VALERIA,

MELONI ALESSANDRA,

FIORENZA FLAVIA,

GALANELLO RENZO,

GASPERINI DANIELA,

AMENDOLA GIOVANNI,

CAO ANTONIO

Publication year - 1995

Publication title -

british journal of haematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.907

H-Index - 186

eISSN - 1365-2141

pISSN - 0007-1048

DOI - 10.1111/j.1365-2141.1995.tb05182.x

Subject(s) - mutation , compound heterozygosity , heterozygote advantage , hemoglobinopathy , genetics , thalassemia , phenotype , microbiology and biotechnology , medicine , biology , gene , hemolytic anemia , genotype

Summary. This study describes the clinical phenotype of the C?→? T mutation at position – 92 of the β‐globin gene. Excluding two cases with HbA2 levels within the range of the /3‐thalassaemia carrier state, heterozygotes for this mutation showed normal or borderline red blood cells count, Hb levels, MCV, MCH and HbA2 values, and unbalanced globin chain synthesis. Compound heterozygotes for the ‐ 92 C → T mutation and a β° thalassaemia mutation (β°39) (two cases) or severe β‐thalassaemia (p + IVSII nt 745) (two cases) developed thalassaemia intermedia. According to these characteristics, the –92 promoter mutation should be added to the list of silent β‐thalassaemias.

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