Phenotype #0000000231

Individual ID 00000642
Associated disease α-thalassaemia
Phenotype details age: 11, has hepatosplenomegaly, developed cholelithiasis at the age of 8 years old, peripheral blood films showed hypochromic microcytic red cells with marked anisopoikilocytosis, polychromasia, basophilic stippling, target cells and occasional nucleated red blood cells
Inheritance -
Height per age -
Weight per age -
Splenectomy done -
Size of spleen (cm) 10
Hematological parameters at diagnosis other Hb variants -
Mid parental height -
Hematological parameters at diagnosis MCV (fL) 84.6
Hematological parameters at diagnosis MCH (pg) 25.6
Iron chelation -
Height velocity -
Hematological parameters at diagnosis HbF (%) 2.2
Hematological parameters at diagnosis HbA2 (%) 2.3
Hematological parametersat diagnosis Hb level (g/dL) 7.1
Genotype details α codon 59α/αCSα
Gender F
Current serum ferritin level -
Frequency of blood transfusion -
Age at receiving first blood transfusion (year) -
Age at current transfusion (year) -
Age at thalassemia presentation 3
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah