Abstract
The May-Hegglin Anomaly (MHA) is a rare autosomal dominant giant platelet disorder characterized by abnormally large platelets with defective leucocytes and thrombocytopenia with varying degrees of bleeding manifestation. Here we report successful pregnancy outcome in a primigravida with MHA. (Preterm Pre-labour Rupture of Membranes) PPROM mother, with abnormalities of the extremities due to ABS is discussed.
Highlights
The May-Hegglin Anomaly (MHA) is a rare autosomal dominant giant platelet disorder characterized by abnormally large platelets with defective leucocytes and thrombocytopenia
We report a case of 29-year -old primigravida with May-Hegglin anomaly following successful pregnancy and peripartum outcome
At the age of 24 years, she was diagnosed with MayHegglin anomaly in a family screening for platelet disorders as her paternal aunt developed menorrhagia with thrombocytopenia with abnormal leucocytes
Summary
The May-Hegglin Anomaly (MHA) is a rare autosomal dominant giant platelet disorder characterized by abnormally large platelets with defective leucocytes and thrombocytopenia. The responsible gene is mapped to Gene map 22q12-13 and mutation of this gene causes abnormal production of non-muscle myosin heavy chains which is asso ciated with macrothrombocytopenia and leucocyte inclusion bodies (Dohle-like bodies) due to defective megakaryocyte maturation and fragmentation At the age of 24 years, she was diagnosed with MayHegglin anomaly in a family screening for platelet disorders as her paternal aunt developed menorrhagia with thrombocytopenia with abnormal leucocytes. Many of her siblings and relatives were found to have MHA following the screening program. Genetic counselling was given to the mother and the baby awaits screening for MHA
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