Thalassemia: An Inherited Blood Disorder - Overview, Inheritance Pattern, Types, Clinical Presentation, Treatment, Genetic Counselling, Pedigree Analysis

THALASSEMIA: AN
INHERITED DISEASE

Thalassemia: Overview
• Thalassemia is a genetic blood disorder.
• In this genetic disorder body of the affected patient
produces a distorted or abnormal form of hemoglobin.
• As a consequence, excessive depletion of red blood
cells occur in the affected patient. This further
damages the transport of oxygen and carbon-di-oxide
by RBCs to different organs.
• This further leads to the development of anemia in the
affected patient.
• According to Global Burden of Disease Study 2013,
approximately 280 million people suffers from
thalassemia.
• Thalassemia most commonly seen among people of
Middle East, Italian , African, Greek (Helmi
et al. 2017).

Inheritance Pattern
•The inheritance pattern of
thalassemia is autosomal
recessive.
•This type of inheritance pattern is
rare in populations.
• In this type of inheritance
pattern, to express the particular
thalassemia phenotype in an
individual both copies of allele
should be mutated.
•Considering the fact that
thalassemia is an autosomal
recessive disorder, in a population,
the prevalence of thalassemia
should be such that the number of