Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand
Abstract
:1. Introduction
2. Materials and Methods
2.1. Subjects and Hematological Studies
2.2. DNA Analysis
2.3. β-Globin Gene Haplotype Analysis
2.4. Development of An Allele-Specific Polymerase Chain Reaction Assay (ASPCR) for Identification of the Hb A2-Mae Phrik Variant
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Parameters | Family 1 | |||||
---|---|---|---|---|---|---|
Mother | Father | S1 | S2 | S3 | S4 | |
Sex/Age (years) | 67 | 68 | Male/34 | Male/57 | Female/54 | Female/36 |
RBC count (×1012/L) | 4.45 | 5.29 | 5.67 | 4.38 | 5.46 | 4.98 |
Hb (g/dL) | 10.8 | 13.8 | 14.5 | 11.5 | 12.4 | 12.5 |
Hct (L/L) | 33.9 | 43.4 | 43.3 | 35.0 | 37.8 | 38 |
MCV (fL) | 76.1 | 82.0 | 76.3 | 79.9 | 69.2 | 76.4 |
MCH (pg) | 24.3 | 26.1 | 25.6 | 26.3 | 22.8 | 25 |
MCHC (g/dL) | 31.9 | 31.8 | 33.5 | 32.9 | 32.9 | 32.8 |
RDW-CV (%) | 12.3 | 12.7 | 11.9 | 12.1 | 27.8 | 14.7 |
CE-Hb Profile a | A2A with A2-variant | EA | EA with A2-variant | EA with A2-variant | EA with A2-variant | EA with A2-variant |
Hb A (%) a | 97.9 | 73.5 | 75.5 | 69.5 | 75.6 | 72.3 |
Hb A2 (%) a | 1.3 | 3.4 | 1.1 | 1.0 | 1.3 | 1.4 |
Hb E (%) a | 0 | 23.1 | 22.0 | 24.6 | 21.5 | 24.6 |
Hb F (%) a | 0 | 0 | 0 | 0 | 0 | 0 |
Hb A2-variant (%) a | 0.8 | 0 | 1.4 | 1.3 | 1.6 | 1.7 |
HPLC-Hb Profile b | A2A with A2-variant | EA | EA with A2-variant | EA with A2-variant | EA with A2-variant | EA with A2-variant |
Hb A (%) b | 85.8 | 62.6 | 64.6 | 58.1 | 62.3 | 61.2 |
Hb A2 + E (%) b | 2.0 | 26.8 | 24.2 | 22.2 | 26.2 | 26.9 |
Hb F (%) b | 0.2 | 0.6 | 0.6 | 1.8 | 0.9 | 1.3 |
Hb A2-variant (%) b | 0.9 | 0 | 1.4 | 1.3 | 1.4 | 1.7 |
Iron profile | ||||||
Ferritin (μg/L) | 120.5 | 33.9 | 74.2 | 893.1 | 34.2 | 82.7 |
Serum iron (μg/dL) | 65.3 | 48.4 | 130.8 | 159.1 | 54.1 | 82.3 |
TIBC (μg/dL) | 262.9 | 320.8 | 349.4 | 227.9 | 333.0 | 363.7 |
%Tsat (%) | 24.8 | 15.1 | 37.4 | 67.8 | 16.3 | 22.6 |
δ-globin genotype | δ52A > G/δA | δA/δA | δ52A > G/δA | δ43G > A/δA | δ43G > A/δA | δ43G > A/δA |
α-globin genotype | αα/αα | −α3.7/αα | −α3.7/αα | αα/αα | αα/αα | αα/αα |
β-globin genotype | βA/βA | βE/βA | βE/βA | βE/βA | βE/βA | βE/βA |
β-Globin Haplotype (5′ > 3′) | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Subjects | β-Genotype | HincII5’ ε | HindIIIGγ | HindIIIAγ | HincII5’ ψβ | HincII3’ ψβ | AvaIIβ | BamHI3’ β | Hb A2-Mae Phrik Linked Haplotype | |
Proband | δ52A > G/δA | [+/−] | [+/−] | [−/−] | [+/−] | [+/−] | [+/−] | [+/+] | δ52A > G δA | [+ − − − − ± +] [− + − + + ± +] |
Mother | δ52A > G/δA | [+/+] | [−/−] | [−/−] | [−/−] | [−/−] | [+/−] | [+/−] | δ52A > G δA | [+ − − − − ± +] [+ − − − − ± +] |
Father | δA/δA | [+/−] | [+/−] | [−/−] | [+/−] | [+/−] | [+/−] | [+/−] | δA δA | [− + −+ + ± +] [+ − − − − ± −] |
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Phasit, A.; Panyasai, S.; Mayoon, M.; Jettawan, N.; Satthakarn, S. Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand. Genes 2022, 13, 959. https://doi.org/10.3390/genes13060959
Phasit A, Panyasai S, Mayoon M, Jettawan N, Satthakarn S. Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand. Genes. 2022; 13(6):959. https://doi.org/10.3390/genes13060959
Chicago/Turabian StylePhasit, Amphai, Sitthichai Panyasai, Monthon Mayoon, Niphawan Jettawan, and Surada Satthakarn. 2022. "Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand" Genes 13, no. 6: 959. https://doi.org/10.3390/genes13060959
APA StylePhasit, A., Panyasai, S., Mayoon, M., Jettawan, N., & Satthakarn, S. (2022). Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand. Genes, 13(6), 959. https://doi.org/10.3390/genes13060959