Details

Autor(en) / Beteiligte

• Aliyeva, Gunay
• Asadov, Chingiz
• Mammadova, Tahira
• Musayev, Shirkhan
• Abdulalimov, Eldar
• Gafarova, Surmaya
• Guliyeva, Yegana

Titel

Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan

Ist Teil von

• Hemoglobin, 2018-07, Vol.42 (4), p.276-277

Ort / Verlag

England: Taylor & Francis

Erscheinungsjahr

2018

Beschreibungen/Notizen

• Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with data of the heterozygous parents.