How do I know if I have May Hegglin Anomaly?

How do I know if I have May Hegglin Anomaly?

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 with distinctive inclusions called Döhle-like bodies. MHA is usually inherited in an autosomal dominant manner, meaning that if one parent has the condition, there is a 50% chance of passing it on to their children.

If you suspect that you may have MHA, it is important to consult with a healthcare professional for a proper diagnosis. They will conduct a thorough medical evaluation, which may include:

• Medical history: Your doctor will ask about your personal and family medical history, including any symptoms you may be experiencing.


• Physical examination: A physical examination will be performed to check for any physical signs associated with MHA, such as enlarged spleen or bleeding tendencies.


• Complete blood count (CBC): A blood test will be done to analyze the number, size, and shape of your platelets. In individuals with MHA, the platelets are typically larger than normal.


• Peripheral blood smear: A sample of your blood will be examined under a microscope to look for the presence of Döhle-like bodies within the platelets.


• Genetic testing: In some cases, genetic testing may be recommended to confirm the diagnosis of MHA and identify the specific genetic mutation responsible.

It is important to note that MHA is a rare condition, and its symptoms can vary widely among affected individuals. Some individuals with MHA may not experience any symptoms at all, while others may have mild to moderate bleeding tendencies, easy bruising, or recurrent infections. Only a healthcare professional can provide an accurate diagnosis based on the clinical evaluation and appropriate testing.

If you suspect you may have MHA or have concerns about your health, it is always best to seek medical advice from a qualified healthcare provider.