Transfusion-dependent phenotype of thalassemia in case of combined carriage of globin genes abnormalities: a-globin gene triplikation and b-thalassemia

Е А Черняк ,Sarabdeep Mann ,М Е Лохматова ,Н А Карамян

doi:10.24287/1726-1708-2020-19-3-73-76

Abstract

Thalassemia is a group of hereditary hemolytic anemias, caused by a quantitative violation of the globin chains synthesis. In adults, the main hemoglobin (HbA) consists of two a- and two b-chains. Normally, regulatory mechanisms maintain a balance between a- and non-a-globin chains in a 1:1 ratio. Mutations in the b-globin gene, leading to a quantitative disruption of the synthesis of b-globin chains, lead to the development of b-thalassemia. In such patients, the presence of concomitant breakdowns of a-globin genes can determine the variability of the clinical symptoms, both mitigating or increasing the severity of the manifestations of beta-thalassemia. The article describes two clinical cases of transfusion-dependent thalassemia with a rare genotype: aaaanti-3.7/aa and b-thalassemia. Parents gave their consent to use information about the child, including fotos, in the article.

Highlights

ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им
Thalassemia is a group of hereditary hemolytic anemias, caused by a quantitative violation of the globin chains synthesis
Regulatory mechanisms maintain a balance between a- and non-a-globin chains in a 1:1 ratio

Summary

КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯ

Поступила 04.09.2019 Принята к печати 30.03.2020 глобиновых генов: трипликация a-глобиновых генов с b-талассемией. Талассемии – это группа наследственных гемолитических анемий, обусловленных количественным нарушением синтеза глобиновых цепей. Mutations in the b-globin gene, leading to a quantitative disruption of the synthesis of b-globin chains, lead to the development of b-thalassemia. In such patients, the presence of concomitant breakdowns of a-globin genes can determine the variability of the clinical symptoms, both mitigating or increasing the severity of the manifestations of beta-thalassemia. The article describes two clinical cases of transfusion-dependent thalassemia with a rare genotype: aaaanti-3.7/aa and b-thalassemia. Thálassa – море и háima – кровь) – группа наследственных гемолитических анемий с аутосомно-рецессивным типом наследования, обусловленных количественным нарушением синтеза полипептидных цепей, входящих в состав гемоглобина. Results of patients with heterozygous b-thalassemia combined with heterozygous triplication of the a-globin gene (aaaanti-3.7)

Нет No

Ультразвуковое исследование органов брюшной полости Abdominal Ultrasound

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