2025 Volume 61 Issue 1 Pages 126-131
May-Hegglin anomaly（MHA）is an autosomal dominant inheritance disorder characterized by varying degrees of thrombocytopenia, giant platelets, and cytoplasmic inclusion bodies in the granulocytes. We report a case of a pregnancy complicated with MHA in which a planned delivery was performed after platelet transfusion with a confirmed diagnosis of MHA by genetic testing.
A 28-years-old primigravida. At the age of 22, a blood test revealed giant platelets, and genetic testing revealed an MYH9 gene mutation（E1841K）, leading to a definite diagnosis of MHA. There was no bleeding tendency or Alport symptoms. After spontaneous conception, her blood platelet count remained at approximately 40,000/μL throughout the pregnancy. After consultation with the hematologist, we decided to proceed with a planned delivery at 38 weeks of gestation, following platelet transfusion to mitigate the risk of excessive bleeding during the peripartum period. Labor induction was initiated at 38 weeks and 0 days of gestation, and the patient successfully delivered vaginally after receiving a total of 30 units of platelet transfusion. The neonate weighed 2,552g, and the maternal blood loss during delivery was 890mL. The neonate’s platelet count was 75,000/μL, and peripheral blood smear revealed the presence of giant platelets, a finding consistent with MHA. Although there are no established guidelines for the treatment of pregnancies complicated with MHA, multidisciplinary management is necessary, paying attention to the risk of hemorrhage during delivery and the inherent characteristic of the genetic disease.
