Hematology is the branch of medicine that focuses on diseases of the blood and blood-forming organs. Through genetic testing, many inherited hematologic disorders—such as Mediterranean anemia, bleeding disorders, and predisposition to clotting—can be diagnosed. Genetic counseling can then help plan risk management for future generations.

Why Are Genetic Tests Necessary in Hematologic Disorders?

Cancer Cytogenetics: Identification of primary and secondary chromosomal abnormalities in certain cancers is crucial for confirming diagnosis, determining prognosis, planning treatment protocols, and monitoring minimal residual disease. Cytogenetic and molecular cytogenetic analyses are essential for the classification of leukemia groups as defined by the World Health Organization (WHO).

Supporting Clinical Diagnosis: Genetic testing may be required to confirm diagnoses in patients with clinical and laboratory findings suggestive of hematologic disorders.

Bleeding Disorders: In individuals with a family history of bleeding disorders, determining the presence of genetic mutations can help anticipate potential risks during pregnancy and implement necessary precautions.

Examples of Hematologic Genetic Tests

Alpha Thalassemia (HBA1, HBA2, HBZ genes) – Deletion Analysis (MLPA)

Beta Thalassemia (HBB gene) – Whole-Gene Sequencing

Bombay Phenotype / Para-Bombay Phenotype – H Antigen (FUT1 gene) – Whole-Gene Sequencing

Del(20q) – FISH

Diamond-Blackfan Anemia Type 1 (RPS19 gene) – Whole-Gene Sequencing

Factor IX Deficiency / X-Linked Thrombophilia (F9 gene) – Whole-Gene Sequencing

Hemophilia A (F8 gene) – Whole-Gene Sequencing

Hemophilia B (F9 gene) – Whole-Gene Sequencing

Hyperhomocysteinemic Thrombosis (CBS gene) – Whole-Gene Sequencing

Human Platelet Antigen (HPA1–HPA5, HPA15 genes) – Allele Analysis

Chromosomal Inversions & Translocations:

inv(16)(p13;q22) (CBFB/MYH11) / t(16;16)(p13;q22) (CBFB/MYH11) – Real-Time PCR

t(11;14)(q13;q32) (IgH/CCND1) – FISH

t(12;21)(p13;q22) (TEL/AML1) – FISH

t(14;18)(q32;q21) (IgH/BCL2) – FISH

t(15;17)(q22;q21) (PML/RARA) – FISH

t(8;21)(q22;q22) (ETO/AML1) – FISH

t(9;22)(q34;q11.2) (BCR/ABL, Philadelphia Chromosome) – FISH

Chimerism (FISH Analysis – Different Sex)

Sickle Cell Anemia (HBB gene) – Sequencing