Table 1. Demographic data and clinical manifestation of patients with compound heterozygosity for Hb Adana and deletional (-α3.7) or nondeletional α-thalassaemia.
| Sex-Age (years) | Ethnic Group | Clinical Manifestation | |
|---|---|---|---|
| P1 | F-42 | Malay | Presented at 30-year-old with hypochromic and microcytic anaemia. No transfusion was required except during pregnancy. Started on 3–4 monthly transfusions at 41-year-old for symptomatic anaemia. |
| P2 | F-5 | Malay | Presented at 2 years suggestive of α-thalassaemia and unusual haemoglobinopathy. Presented again at 5 years with chronic anaemia and significant hepatosplenomegaly. Patient on hyper-transfusion regimen. |
| P3 | F-0.5 | Malay | Presented at 5 months with background history of conjugated bilirubin, raised liver enzyme and neonatal hepatitis. Peripheral blood film suggestive of haemolysis and enzymopathy. |
| P4 | F-25 | Malay | Transfused since 6-year-old. |
| P5 | M-15 | Malay | Case notes were not available. |
| P6 | M-13 | Malay | Transfused since 5-month-old. |
| P7* | F-11 | Malay | Patient showed haemolytic anaemia with frontal bossing, tinge of jaundice, maxillary hyperplasia and hepatosplenomegaly. |
| P8* | F-9 | Malay | Presented at 1 year 7 months and diagnosed with HbH disease with HbCS. Presented again at 9 years with anaemia and hepatosplenomegaly. |
| P9* | F-12 | Malay | Case notes were not available. |
| P10* | M-15 | Malay | Presented at 3 years old with Hb between 6 to 7.8 g/dL. Noted fall off in height centiles at 14 years old with no puberty features and increasing spleen size (9 cm). Started on regular transfusion at 8 weekly intervals. |
| P11 | M-9 | Malay-Indian | Presented with anaemia (Hb 5.5 g/dL) at 6.5 years and given first transfusion, followed by 2 more in the same year. Patient remains asymptomatic and is able to maintain Hb between 7.4–9.5 g/dL without transfusion. |
| P12 | M-13 | Chinese | Presented with anaemia (Hb 5.8 g/dL) and hepatosplenomegaly at 2-month-old. First transfused at 4-month-old and transfused again at 7-month-old. Maintained on regular transfusion since 8-year-old to ensure normal growth and facies. |
| P13 | M-9 | Malay | Presented at 1-year-old with pallor and hepatosplenomegaly. Patient on hyper-transfusion regimen (4–6 weeks) due to poor growth. |
P1: α-thalassaemia intermedia (αcodon 59α/-α3.7).
P2–P12: Severe α-thalassaemia intermedia (αcodon 59α/αCSα).
P13: Severe α-thalassaemia intermedia (αcodon 59α/αPakséα).
P7–P10*: Patients with one sibling confirmed with severe α-thalassaemia intermedia (αcodon 59α/αCSα).