Table 1 Genotype diversity of deletional and nondeletional HbH disease, hematological indices and clinical manifestations.
α-Globin genotype | No. of patients | Transfusion-dependent | Pallor | Splenectomy | Splenomegaly | Hepatomegaly | Ethnic | MCV (mean ± SD) | MCH (mean ± SD) | RBC (mean ± SD) | HbA2 (mean ± SD) | HGB (mean ± SD) | HbH (%) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
No. of patients | Frequency of transfusion | |||||||||||||
Deletional | ||||||||||||||
-Med/–α3.7 | 33 17 F 16 M | 3 | 1-Monthly, female 2-Two times during pregnancy 3-Once during pregnancy | 33 | 2 | 10 | 8 | Arab:28 Lor:3 Fars:2 | 57. 4 ± 6.6 | 16.62 ± 1.58 | 5.3 ± 0.75 | 1.5 ± 0.7 | 8.3 ± 0.7 | 7.8 ± 3.7 |
--Med/–α4.2 | 1 F | 0 | – | 1 | 0 | 1 | 1 | Arab | 55.4 | 16.2 | 4.66 | 1.2 | 7.5 | NR |
-(20.5)/–α3.7 | 1 F | 0 | – | 1 | 0 | 1 | 1 | Fars | 64.6 | 18.6 | 5.05 | 0.5 | 9.4 | 0.5 |
Non-deletional | ||||||||||||||
--Med/αpoly A6α | 2 F | 2 | Once | 2 | 2 | 2 | 2 | Arab:2 | 56.25 ± 6.2 | 17.35 ± 1.6 | 5.38 ± 0.55 | 1.3 ± 0.14 | 9.25 ± 0.05 | NR |
--Med/αpoly A4 α | 3 2 F 1 M | 0 | – | 3 | 0 | 2 | 2 | Fars:2 Arab:1 | 56.8 ± 6.3 | 17 ± 1.75 | 5.4 ± 0.5 | 1.1 ± 0.36 | 9.1 ± 0.15 | 7.3 ± 0.6 |
--Med/αCD19(-G) α | 3 2 F 1 M | 2 | 1-Once after pregnancy 2-Once during pregnancy | 3 | 0 | 3 | 3 | Arab:3 | 65.6 ± 4.2 | 16.6 ± 0.4 | 4.41 ± 0.2 | 2 ± 0.2 | 7.35 ± 0.5 | 1.5 ± 0.2 |
--Med/αInitiation CD (T>G)α | 1 F | 1 | Two times before pregnancy and two times during pregnancy | 1 | 0 | 1 | 1 | Fars | 73 | 22.8 | 3.81 | 1.5 | 7.5 | 10 |
-(20.5)/α5ntα | 1 F | 0 | - | 1 | 0 | 1 | 1 | Arab | 52.3 | 15.9 | 4.65 | 0.8 | 7.4 | 14.3 |
αpoly A6α/αpoly A6α | 13 7 F 6 M | 2 | 1-Once during pregnancy 2-Once at age of 40 days | 13 | 0 | 10 | 5 | Arab:12 Fars:1 | 62.5 ± 8.7 | 18.3 ± 3.0 | 5.09 ± 1.01 | 2.1 ± 0.7 | 9.07 ± 2.6 | 14.8 ± 3.5 |
αpoly A4α/αpoly A4α | 15 8 F 7 M | 0 | – | 6 | 0 | 2 | 2 | Arab:11 Lor:2 Fars:2 | 68 ± 2.4 | 21.07 ± 1.54 | 5.67 ± 0.6 | 2.5 ± 0.7 | 12.0 ± 1.7 | NR |
αConstant springα/α Constant springα | 2 1 F, 1 M | 1 | once | 2 | 0 | 2 | 2 | Lor:1 Shoshtari:1 | 78.85 ± 3.4 | 23.65 ± 0.15 | 4.04 ± 0.09 | 3.2 ± 2.0 | 9.55 ± 0.15 | 0.9 ± 0.1 |
αConstant springα/αHb Icariaα | 1 M | 0 | – | 1 | 0 | 1 | 1 | Lor | 76.4 | 22.5 | 4.58 | 2.7 | 10.3 | NR |
αpoly A6α/αConstant springα | 1 F | 0 | – | 1 | 0 | 1 | 1 | Arab | 69.28 | 21.33 | 5.11 | 1.5 | 10.9 | NR |
α5nt α/αpoly A6 α | 2 F | 0 | – | 0 | 0 | 1 | 1 | Arab:2 | 59.05 ± 1.2 | 17.9 ± 0.9 | 6.2 ± 0.3 | 1.6 ± 1.0 | 11.15 ± 1.1 | NR |
αInitiation CD (T>G)α/αInitiation CD (T>G)α | 4 3 M, 1F | 0 | – | 1 | 0 | 1 | 1 | Arab:3 | 64.9 ± 3.2 | 20.3 ± 1.7 | 5.66 ± 1.1 | 2.2 ± 0.8 | 11.5 ± 1.1 | NR |
α5nt α/α5nt α | 12 7 M, 5 F | 0 | – | 0 | 0 | – | – | Arab:11 Lor:1 | 64.4 ± 3.7 | 20.1 ± 1.2 | 5.6 ± 0.8 | 2.5 ± 0.56 | 11.7 ± 1.9 | NR |
αCD19(-G) α/αCD19(-G) α | 25 10 F, 15 M | 0 | – | 0 | 0 | – | – | Arab:12 Lor:13 | 65.3 ± 3.4 | 19.9 ± 1.0 | 5.5 ± 0.7 | 0.4 ± 0.2 | 11.3 ± 1.46 | NR |
