What type of study is this?

This is a Case Report study (also classified as: Literature Review).

Compound Heterozygous Hb Milledgeville With −α4.2 Thalassemia—A Rare and First Reported Cause of Primary Erythrocytosis in an Indian Family

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Reports a rare hemoglobinopathy causing erythrocytosis in a 42-year-old male, indicating genetic implications for family screening.

Erythrocytosis was managed through multiple phlebotomies due to high-oxygen affinity hemoglobinopathy, revealing new genetic insights.
Patient exhibits a compound heterozygous state for Hb Milledgeville and −α4.2 thalassemia, marking a unique case.
Investigation utilized NGS, GAP-PCR, and MLPA to confirm the genetic variants across family members, emphasizing hereditary aspects.
This case highlights the need for genetic testing in families with history of hemoglobinopathies and erythrocytosis.

Chauhan et al. (2025) studied this question.

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View Full Paper

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Authors

Reports a rare hemoglobinopathy causing erythrocytosis in a 42-year-old male, indicating genetic implications for family screening.

Erythrocytosis was managed through multiple phlebotomies due to high-oxygen affinity hemoglobinopathy, revealing new genetic insights.
Patient exhibits a compound heterozygous state for Hb Milledgeville and −α4.2 thalassemia, marking a unique case.
Investigation utilized NGS, GAP-PCR, and MLPA to confirm the genetic variants across family members, emphasizing hereditary aspects.
This case highlights the need for genetic testing in families with history of hemoglobinopathies and erythrocytosis.

Chauhan et al. (2025) studied this question.

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