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  • Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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2 January 2020

A First Case of Hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] Associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] Mutation Found in a Syrian Betathalassemia Patient

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1
Faculty of Pharmacy, Damascus University, Damascus, Syria
2
Thalassemia Center, Ministry of Health, Damascus, Syria
3
Molecular Biology and Biotechnology Department, Atomic Energy of Syrian Commission, Damascus, Syria
*
Author to whom correspondence should be addressed.
Thalass. Rep.2020, 10(1), 8396;https://doi.org/10.4081/thal.2020.8396
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Abstract

Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β0 [IVS-I-1 (G>A); AG^GTTGGT- >AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not.

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