Next Article in Journal
Discriminant Value of %Microcytic Cells/%Hypochromic Cells Ratio in the Differential Diagnosis of Microcytic Anemia
Previous Article in Journal
Efficacy of Ruxolitinib as Inducer of Fetal Hemoglobin in Primary Erythroid Cultures from Sickle Cell and Beta-Thalassemia Patients
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Thalassemia Reports
Volume 10
Issue 1
10.4081/thal.2020.8396
thalassrep-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
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.
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
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

Share and Cite

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

APA Style

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

Article Metrics

Back to TopTop