Thalassemia Flashcards
What type of disorder is thalassemia
genetic disorder
Disorder that results from abnormalities in the synthesis of the hemoglobin molecule contained in red blood cells
Thalassemia
what is the inheritance pattern of thalassemia
AR
how many genes code for alpha chain
4
how many genes code for beta chains
2
which gene is present in chromosome 16
alpha
which genes are present on chromosome 11
beta, gamma, delta
the percentage of HbA
97%
the percentage of Hb A2
2.5%
percentage of HbF
< 1%
alpha thalassemia mechanism
gene deletion chromosome 16
beta thalassemia mechanism
point mutation chromosome 11
silent career with little signs
a-/aa
–/aa
cis double deletion
-a/-a
trans double deletion
what is more common double deletion
cis
–/-a
HbH