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Molecular basis of α-thalassemia

Farashi, Samaneh, Harteveld, Cornelis L.·2018·Blood Cells, Molecules, and Diseases
DOI 10.1016/j.bcmd.2017.09.004
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CC-BY-NC-ND · From the PDF
Fig. 1 Schematic presentation of the chromosomal location of the α - and β -globin gene clusters on 16p and 11p respectively. The embryonic and foetal genes are indicated as open boxes. The genes which remain active throughout postnatal life in grey and black. The di ff erent hemoglobins expressed during the embryonic period are shown, from left to right Hb Gower-1 ( ζ 2 ε 2), Hb Gower-2 ( α 2 ε 2) and Hb Portland ( ζ 2 γ 2), foetal period (HbF) and postnatal period (HbA and HbA2).
Fig. 1 Schematic presentation of the chromosomal location of the α - and β -globin gene clusters on 16p and 11p respectively. The embryonic and foetal genes are indicated as open boxes. The genes which remain active throughout postnatal life in grey and black. The di ff erent hemoglobins expressed during the embryonic period are shown, from left to right Hb Gower-1 ( ζ 2 ε 2), Hb Gower-2 ( α 2 ε 2) and Hb Portland ( ζ 2 γ 2), foetal period (HbF) and postnatal period (HbA and HbA2).CC-BY-NC-ND · From the PDF
Fig. 2 Classi fi cation of α -thalassemia defects and phenotypic expression.
Fig. 2 Classi fi cation of α -thalassemia defects and phenotypic expression.CC-BY-NC-ND · From the PDF
Fig. 3 Deletions that cause α + -thalassemia. The homologous duplication units X, Y and Z in which the α -globin genes are embedded are indicated as coloured boxes. A cross-over between the mis-paired Z boxes during meiosis gives rise to (a) the α 3.7 and ααα anti 3.7 chromosomes. (b) Cross-over between misaligned X-boxes give rise to α 4.2 and ααα anti 4.2 .
Fig. 3 Deletions that cause α + -thalassemia. The homologous duplication units X, Y and Z in which the α -globin genes are embedded are indicated as coloured boxes. A cross-over between the mis-paired Z boxes during meiosis gives rise to (a) the α 3.7 and ααα anti 3.7 chromosomes. (b) Cross-over between misaligned X-boxes give rise to α 4.2 and ααα anti 4.2 .CC-BY-NC-ND · From the PDF
Fig. 4 Schematic presentation of the α -globin gene cluster and surrounding genes on the telomeric end of chromosome 16p. The telomere is represented as an oval, genes are shown as boxes. The α -globin regulatory region (MCS-R 1 to 4) is indicated as vertical bars. The scale is in kilobases (kb). Below the α -gene cluster is shown enlarged with the traditional and HGVS gene annotation. The most common α -thalassemia ( α -thal) deletions are indicated as grey bars indicating the length of the deletion and the annotation and subdivided into α + - and α 0 -thalassemia deletions.
Fig. 4 Schematic presentation of the α -globin gene cluster and surrounding genes on the telomeric end of chromosome 16p. The telomere is represented as an oval, genes are shown as boxes. The α -globin regulatory region (MCS-R 1 to 4) is indicated as vertical bars. The scale is in kilobases (kb). Below the α -gene cluster is shown enlarged with the traditional and HGVS gene annotation. The most common α -thalassemia ( α -thal) deletions are indicated as grey bars indicating the length of the deletion and the annotation and subdivided into α + - and α 0 -thalassemia deletions.CC-BY-NC-ND · From the PDF
Fig. 5 Microscopic examination of the blood smear after staining with 1% Brilliant Cresyl Blue at 1000 fold magni fi cation. (a). Red cells of HbH disease patient showing Inclusion Body positive cells (1000×magni fi cation). (b). Red cells of α 0 -thalassemia carrier showing an occasional Inclusion Body positive cell after searching 10 -20 fi elds (1000×magni fi cation).
Fig. 5 Microscopic examination of the blood smear after staining with 1% Brilliant Cresyl Blue at 1000 fold magni fi cation. (a). Red cells of HbH disease patient showing Inclusion Body positive cells (1000×magni fi cation). (b). Red cells of α 0 -thalassemia carrier showing an occasional Inclusion Body positive cell after searching 10 -20 fi elds (1000×magni fi cation).CC-BY-NC-ND · From the PDF

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Authors
Farashi, S., & Harteveld, C. L.
Venue
Blood Cells, Molecules, and Diseases
Publisher
Elsevier BV
Published
2018-05
Volume
70
Pages
43-53
ISSN
1079-9796
DOI
10.1016/j.bcmd.2017.09.004
Cited by
227
References
7
Language
en
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