Article

De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence

2024-06-17

Abstract excerpt

<title>Abstract</title> <p>Abnormality of three α-globin genes, either deletion or point mutation results in symptomatic Hemoglobin H (HbH) phenotype. Most of such cases of α-globin defects are inherited from the parents, de-novo cases are exceedingly rare. Herein, a case of HbH is reported where the proband inherited one α-globin gene with a point mutation (α<sup>Evanston</sup>) from the mother. This was associa...

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Literature Corpus work: a5639dfa-3c39-5b32-abea-2dc3924dab33
DOI: 10.21203/rs.3.rs-4475292/v1

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