Hemoglobinopathies Flashcards
Hemoglobinopathies is caused by
differences in the arrangement of amino acids in the polypeptide chain
Major Groups of Hemoglobinopathies
Alpha-hemoglobinopathies
Beta-hemoglobinopathies
Gamma-hemoglobinopathies
Delta-hemoglobinopathies
most commonly encountered hemoglobinopathy
Beta-hemoglobinopathies
B-hemoglobinopathies
Homozygous β-hemoglobinopathies &
Heterozygous β-hemoglobinopathies
both BETA genes are mutated
Homozygous β-hemoglobinopathies
one BETA gene is normal
Heterozygous β-hemoglobinopathies
HbA1 is absent in
Homozygous β-hemoglobinopathies
Hb A1 is in greater amount than abnormal hemoglobin
Heterozygous β-hemoglobinopathies
Sickle cell disease & HB C disease are what type of Hemoglobinopathy?
Homozygous β-hemoglobinopathies
Sickle cell trait and Hb C trait are what type of Hemoglobinopathy?
Heterozygous β-hemoglobinopathies
abnormal hemoglobinopathies s present in certain β-hemoglobinopathies
1) Hb S
2) Hb C
3) Hb E
Alpha2Beta2^26GLU–LYS
Hb E
Alpha2Beta2^6GLU–VAL
Hb S
Alpha2Beta2^6GLU–LYS
Hb C
most common/sever B-hemoglobinopathy
Hb S