Surreal illustration of blood cells and DNA strands, symbolizing May-Hegglin Anomaly.

Decoding May-Hegglin Anomaly: Understanding the Rare Blood Disorder

Lena Voss in Health & Wellness August 2025 • 3 min read.

"Delving into the genetic mutations, symptoms, and management of May-Hegglin Anomaly, a rare blood condition impacting platelet production and function."

May-Hegglin Anomaly (MHA) is a rare genetic blood disorder characterized primarily by thrombocytopenia (a reduced number of platelets in the blood), abnormally large platelets, and the presence of Döhle-like bodies in white blood cells. Understanding this condition is crucial for proper diagnosis and management, as its subtle symptoms often lead to misdiagnosis or delayed treatment.

This article aims to provide a comprehensive overview of May-Hegglin Anomaly, covering its genetic basis, clinical manifestations, diagnostic approaches, and current treatment options. By shedding light on this rare condition, we hope to empower individuals, families, and healthcare professionals with the knowledge needed to navigate its complexities.

The Genetics of May-Hegglin Anomaly

Surreal illustration of blood cells and DNA strands, symbolizing May-Hegglin Anomaly.

May-Hegglin Anomaly is caused by mutations in the MYH9 gene, which provides instructions for producing a protein called non-muscle myosin heavy chain IIa. This protein is essential for the proper function of platelets and white blood cells. Mutations in MYH9 disrupt the structure and function of myosin, leading to the characteristic features of MHA.

The inheritance pattern of May-Hegglin Anomaly is autosomal dominant, meaning that only one copy of the mutated gene is sufficient to cause the disorder. In most cases, an affected individual inherits the mutated gene from one affected parent. However, MHA can also result from new mutations in the MYH9 gene, occurring spontaneously in individuals with no family history of the condition. Understanding the genetic basis of MHA is crucial for accurate diagnosis, genetic counseling, and potential future therapies.

It is important to note that mutations in the MYH9 gene can also cause other related disorders, including:

Fechtner syndrome
Sebastian syndrome
Epstein syndrome

These conditions share similar features with MHA, such as thrombocytopenia and Döhle-like bodies, but may also involve additional symptoms, such as hearing loss or kidney problems. The presence of these overlapping conditions highlights the importance of comprehensive genetic testing and clinical evaluation for accurate diagnosis and management.

Living with May-Hegglin Anomaly: Management and Outlook

While there is no cure for May-Hegglin Anomaly, most individuals with the condition lead relatively normal lives with proper management. Regular monitoring of platelet counts is essential to assess the risk of bleeding complications. In cases of severe thrombocytopenia or significant bleeding episodes, treatments such as platelet transfusions may be necessary. Supportive care, including avoiding activities that could lead to injury and managing any associated symptoms, can also improve the quality of life for individuals with MHA. Genetic counseling is recommended for families affected by MHA to understand the inheritance pattern and assess the risk of future offspring inheriting the condition.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1007/978-3-662-49054-9_2048-1, Alternate LINK

Title: May-Hegglin-Anomalie

Journal: Lexikon der Medizinischen Laboratoriumsdiagnostik

Publisher: Springer Berlin Heidelberg

Authors: H. Baum

Published: 2018-01-01

Everything You Need To Know

What is May-Hegglin Anomaly, and what are its primary characteristics?

May-Hegglin Anomaly (MHA) is a rare genetic blood disorder characterized by thrombocytopenia, abnormally large platelets, and Döhle-like bodies in white blood cells. Thrombocytopenia refers to a reduced number of platelets in the blood, which can impair blood clotting. The presence of Döhle-like bodies in white blood cells is another key diagnostic feature.

What genetic factors cause May-Hegglin Anomaly, and how is it inherited?

May-Hegglin Anomaly is caused by mutations in the MYH9 gene, which provides instructions for producing non-muscle myosin heavy chain IIa. When this gene is mutated, it disrupts the structure and function of myosin, leading to the characteristic features of MHA, such as abnormal platelet production and function. This mutation follows an autosomal dominant inheritance pattern, meaning only one copy of the mutated gene is sufficient to cause the disorder.

How is May-Hegglin Anomaly managed, and what is the long-term outlook for individuals with this condition?

While there's no cure for May-Hegglin Anomaly, management focuses on monitoring platelet counts and addressing complications. Platelet transfusions may be needed for severe thrombocytopenia or significant bleeding. Supportive care involves avoiding activities that could lead to injury. Genetic counseling is recommended for families affected by MHA to understand the inheritance pattern and assess the risk to future offspring. Future therapies might target the underlying genetic defect or aim to improve platelet production and function.

Are there other conditions related to May-Hegglin Anomaly due to mutations in the MYH9 gene, and how do they compare?

Mutations in the MYH9 gene can also cause other related disorders like Fechtner syndrome, Sebastian syndrome, and Epstein syndrome. These conditions share features with May-Hegglin Anomaly, such as thrombocytopenia and Döhle-like bodies, but may also involve additional symptoms like hearing loss or kidney problems. Comprehensive genetic testing and clinical evaluation are essential for accurate diagnosis because of these overlapping conditions.

What role do platelets play in individuals with May-Hegglin Anomaly, and how does the condition affect their function?

Platelets, also known as thrombocytes, are essential for blood clotting. When blood vessels are injured, platelets clump together to form a plug, stopping the bleeding. In individuals with May-Hegglin Anomaly, the reduced number and abnormal size of platelets can lead to bleeding tendencies. Platelet transfusions may be necessary in cases of severe thrombocytopenia or significant bleeding episodes to restore adequate clotting function.