MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience.
OBJECTIVE
May-Hegglin anomaly (MHA) is a rare familial bleeding disorder characterized by a triad of thrombocytopenia, giant platelets, and Döhle-like inclusion bodies within the leukocytes. The clinical spectrum as well as the pathophysiology of this entity is not well defined. The objective of this work is to present a series of three cases of MHA diagnosed in our hospital, where the patients presented with variable bleeding manifestations, thrombocytopenia, and giant platelets.


METHODS
We studied three cases of possible MHA. In addition to the clinical examination, complete hemogram, and peripheral blood smear examination, these patients were also subjected to coagulation studies. Although bleeding symptoms varied among these patients, platelet aggregation tests with various agonists showed a normal response.


RESULTS
Consistent findings of this entity noted in our patients were mild-to-moderate thrombocytopenia, giant platelets, and Döhle-like inclusions within the leukocytes.


CONCLUSIONS
A diagnosis of MHA could be made based on a thorough peripheral blood smear examination, which also helps to avoid a misdiagnosis of immune thrombocytopenia.
Department of Transfusion Medicine and Immunohematology, Christian Medical College, Vellore, Tamil Nadu, India. Electronic address: indu_7911@yahoo.com.
Vandana
V
Kamath
Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
Kiruthiga Kala
KK
Gnanasekaran
Department of Transfusion Medicine and Immunohematology, Christian Medical College, Vellore, Tamil Nadu, India.
Joy
J
Mammen
D000328:Adult; D003594:Cytoplasmic Granules / Q000378:metabolism / Q000648:ultrastructure; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000473:pathology*; D006801:Humans; D008297:Male; D063128:Tertiary Health Care; D013921:Thrombocytopenia / Q000097:blood / Q000151:congenital* / Q000473:pathology; D055815:Young Adult
Döhle-like inclusions; Giant platelets; MYH9-related platelet disorder; May–Hegglin anomaly; Thrombocytopenia