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Understanding the Incidence of Hemoglobinopathies

  • November 04,2021
  • 1 Min Read
Understanding the Incidence of Hemoglobinopathies

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%

*These percentages do not include double heterozygous cases.

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