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A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia

A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major... In normal individuals, α-globin genes encoding the α-globin chains are duplicated and localized in the telomeric region of chromosome 16 (16p13.3). Their expression is regulated by 4 remote highly conserved noncoding regions (multispecies conserved sequences or MCS-R1-4) located upstream of the α gene cluster. Among the 4 MCS-Rs, MCS-R2, located about 40 kb upstream of the ζ gene, is the most focused on by researchers and behaves as a classical enhancer [1]. The main function of MCS-R2 in the normal chromosomal environment is to activate and enhance the expression from the ζ and the α promoters [2]. Recently, we reported a Chinese family with α-thalassemia due to a deletion of only the MCS-R2 [(αα)JX] [3]. The carriers presented with hematological characteristics as that of α⁰-thalassemia. This is also demonstrated by other studies in that compound heterozygotes [(αα)/-α] have the clinical phenotype of hemoglobin (Hb) H disease and are indistinguishable from patients who inherit a single functional α gene (--/-α) [4,5]. However, it is not known what happens to a subject who inherits compound heterozygous defects with (αα)/--. Here we describe a new case of a 6-month-old Chinese girl with severe Hb H disease due to a deletion of the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Haematologica Karger

A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia

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References (9)

Publisher
Karger
Copyright
© 2017 S. Karger AG, Basel
ISSN
0001-5792
eISSN
1421-9662
DOI
10.1159/000477531
Publisher site
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Abstract

In normal individuals, α-globin genes encoding the α-globin chains are duplicated and localized in the telomeric region of chromosome 16 (16p13.3). Their expression is regulated by 4 remote highly conserved noncoding regions (multispecies conserved sequences or MCS-R1-4) located upstream of the α gene cluster. Among the 4 MCS-Rs, MCS-R2, located about 40 kb upstream of the ζ gene, is the most focused on by researchers and behaves as a classical enhancer [1]. The main function of MCS-R2 in the normal chromosomal environment is to activate and enhance the expression from the ζ and the α promoters [2]. Recently, we reported a Chinese family with α-thalassemia due to a deletion of only the MCS-R2 [(αα)JX] [3]. The carriers presented with hematological characteristics as that of α⁰-thalassemia. This is also demonstrated by other studies in that compound heterozygotes [(αα)/-α] have the clinical phenotype of hemoglobin (Hb) H disease and are indistinguishable from patients who inherit a single functional α gene (--/-α) [4,5]. However, it is not known what happens to a subject who inherits compound heterozygous defects with (αα)/--. Here we describe a new case of a 6-month-old Chinese girl with severe Hb H disease due to a deletion of the

Journal

Acta Haematologica – Karger

Published: Jan 1, 2017

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