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
group of hemoglobinopathies that are Increased in oxygen affinity?
Hb Hiroshima
Hb Rainier
Hb Bethesda
M hemoglobins
-assoc. w/ methemoglobinemias & cyanosis
Hb M-Saskatoon
Hb M-Milwaukee-1
Hb M-Milwaukee-2
aka Hyde Park
Hb M-Milwaukee-2
group of hemoglobinopathies that are decreased in oxygen affinity?
Hb Agenogi
Hb Beth Israel
Hb Yoshizuka
hemoglobin that crystallizes
Hb S
cells that obstruct blood flow to tissues and organs
Sickle cells
“holly-leaf” form of the RBCs
frequently found in Sickle cell trait
- (+) result in Sodium metabisulfite method
Hb D & Hb G results in Sodum dithionite tube test
Negative
Hb S result in Sodum dithionite tube test
Positive
