Phenotype #0000000384

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