What is thalassemia?
An inherited disorder of hemoglobin chain synthesis, causing chronic anemia.
Symptoms and clinical features
Severe anemia, growth delay, splenomegaly and regular transfusions in the major form.
Genetic causes
Mutations in HBB (beta) or HBA1/HBA2 (alpha) genes.
Inheritance pattern
Autosomal recessive.
Important genes
HBB, HBA1, HBA2.
Who should be tested?
Couples before marriage, relatives of patients and individuals with low MCV.
Recommended tests
Carrier screening, HBB sequencing, MLPA for alpha.
Family planning and counseling
PGT-M offers carrier couples an important option to prevent affected pregnancies.