Genetic Diseases

Genetic Testing for Thalassemia

Thalassemia is the most common inherited blood disorder in Iran; carrier screening plays a key preventive role.

Genetic Diseases

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.

Frequently Asked Questions

Contact Gene Negar Ayandegan

Contact Gene Negar Ayandegan for sample submission, laboratory collaboration, or more information.

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Gene Negar Ayandegan · Genetic Testing for Thalassemia