Short answer · Medically reviewed summary · Last updated: 2023-07-13
May-Hegglin Anomaly (MHA) is a rare genetic disorder that affects the blood cells, specifically the platelets. It is characterized by the presence of large platelets and abnormal inclusions called Döhle-like bodies in the white blood cells. As for the hereditary nature of MHA, it is indeed inherited in an autosomal dominant manner.
Is May Hegglin Anomaly hereditary?
Is May Hegglin Anomaly hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.
May-Hegglin Anomaly (MHA) is a rare genetic disorder that affects the blood cells, specifically the platelets. It is characterized by the presence of large platelets and abnormal inclusions called Döhle-like bodies in the white blood cells.
As for the hereditary nature of MHA, it is indeed inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children.
The specific gene mutation responsible for MHA has been identified as a mutation in the MYH9 gene, which encodes a protein called myosin heavy chain 9. This mutation leads to the characteristic features of MHA.
It is important to note that while MHA is hereditary, the severity and symptoms of the condition can vary widely among affected individuals, even within the same family. Some individuals may have mild or no symptoms, while others may experience more significant health issues related to abnormal bleeding or bruising.
Genetic counseling is recommended for individuals with MHA or those with a family history of the condition. This can help provide information about the risks of passing on the condition and assist in making informed decisions regarding family planning.
