Understanding the Incidence of Hemoglobinopathies

November 04,2021
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Hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule.

There are 2 major types:

Quantitative abnormalities: Disorders of decreased globin chain production. Eg: Thalassemias (α, β, δ, δβ)
Qualitative abnormalities: Structural variant hemoglobins present. Eg: HbS (Sickle cell), HbD Punjab, HbE, HbQ India, etc.

Acquired hemoglobinopathies:

These are not inherited and are caused due to certain physiological states, deficiencies or diseases.

Elevated HbF: Pregnancy, stress hemopoiesis, acute leukemia, JMML, cell-cycle specific drugs
Elevated HbA2: Vit B12 deficiency
Low HbA2: Iron deficiency
Acquired HbH: MDS and AML

They can potentially influence the levels of normal and abnormal hemoglobins in inherited hemoglobinopathies if present concurrently.

The Suburban Diagnostics CoE for Hematology conducted a retrospective study of all cases of hemoglobin analysis conducted by HPLC between 2015 and 2021 to identify the incidence of various hemoglobinopathies. From 34,000+ samples, we found that the 6 year incidence of hemoglobinopathies was 13.3%. The 6 year incidence of some of the major hemoglobinopathies include:

Beta Thalassemia Trait: 8.8%*
Beta Thalassemia Homozygous: 0.1%
Sickle Cell Heterozygous: 0.8%*
Sickle Cell Homozygous: 0.2%
Hemoglobin D Punjab Heterozygous: 0.4%*
Hemoglobin D Punjab Homozygous: 0.01%
Hemoglobin E Heterozygous: 0.4%*
Hemoglobin E Homozygous: 0.05%