Phenotype #0000000384
| Individual ID |
00001071 |
| Associated disease |
HBB |
| Phenotype details |
Beta thalassemia major with signs of prominent facial bones and frontal bossing. |
| Inheritance |
- |
| Height per age |
143 cm |
| Weight per age |
43.5 kg |
| Splenectomy done |
Yes |
| Size of spleen (cm) |
- |
| Hematological parameters at diagnosis other Hb variants |
- |
| Mid parental height |
- |
| Hematological parameters at diagnosis MCV (fL) |
- |
| Hematological parameters at diagnosis MCH (pg) |
- |
| Iron chelation |
Yes, deferiprone |
| Height velocity |
- |
| Hematological parameters at diagnosis HbF (%) |
- |
| Hematological parameters at diagnosis HbA2 (%) |
- |
| Hematological parametersat diagnosis Hb level (g/dL) |
- |
| Genotype details |
- |
| Gender |
Female |
| Current serum ferritin level |
- |
| Frequency of blood transfusion |
- |
| Age at receiving first blood transfusion (year) |
2-years-old |
| Age at current transfusion (year) |
19year-old |
| Age at thalassemia presentation |
2-years-old |
| Owner name |
Mohamad Fouzul Bin Mohd Yusoff |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Mohamad Fouzul Bin Mohd Yusoff |
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