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Heterozygous Hemoglobin Sherwood Forest Causing Polycythemia.

Vikram M Raghunathan¹, James N Butera^1,2, Diana O Treaba³

¹Department of Medicine, Brown University Alpert Medical School, Providence, RI, USA.

Case Reports in Hematology

|November 3, 2017

Summary

Hemoglobin Sherwood Forest, a high-affinity variant, typically causes no symptoms in heterozygotes. However, this report details the first case of heterozygous Hb Sherwood Forest leading to chronic erythrocytosis.

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Area of Science:

Hematology
Human Genetics
Molecular Biology

Background:

Hemoglobin (Hb) Sherwood Forest is a rare, high-affinity variant caused by an Arg104Thr substitution in the beta chain.
Previously, heterozygotes for Hb Sherwood Forest were considered phenotypically normal, with erythrocytosis only observed in the homozygous state.

Observation:

A patient presented with chronic erythrocytosis without any other identifiable cause.
Genetic analysis revealed the patient was heterozygous for the Hb Sherwood Forest variant.

Findings:

This case represents the first documented instance of heterozygous Hb Sherwood Forest causing erythrocytosis.
The high-affinity hemoglobin variant, previously thought to be benign in heterozygotes, was identified as the sole cause of polycythemia in this patient.

Implications:

This finding challenges the established understanding of Hb Sherwood Forest's clinical presentation.
Further investigation is warranted to understand the mechanisms by which heterozygous Hb Sherwood Forest can induce erythrocytosis.
Clinical evaluation for Hb Sherwood Forest should consider erythrocytosis even in heterozygous carriers.