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Case Report

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

by
Ahmad Shoujaa
1,*,
Yasser Mukhalalaty
2,
Hossam Murad
3 and
Faizeh Al-Quobaili
1
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
Submission received: 12 July 2019 / Revised: 7 December 2019 / Accepted: 17 December 2019 / Published: 2 January 2020

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.
Keywords: Hb Castilla; β-Thalassemia (β-thal); mutations; Syria Hb Castilla; β-Thalassemia (β-thal); mutations; Syria

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MDPI and ACS Style

Shoujaa, A.; Mukhalalaty, Y.; Murad, H.; Al-Quobaili, F. 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. Thalass. Rep. 2020, 10, 8396. https://doi.org/10.4081/thal.2020.8396

AMA Style

Shoujaa A, Mukhalalaty Y, Murad H, Al-Quobaili F. 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. Thalassemia Reports. 2020; 10(1):8396. https://doi.org/10.4081/thal.2020.8396

Chicago/Turabian Style

Shoujaa, Ahmad, Yasser Mukhalalaty, Hossam Murad, and Faizeh Al-Quobaili. 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" Thalassemia Reports 10, no. 1: 8396. https://doi.org/10.4081/thal.2020.8396

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