How is May Hegglin Anomaly diagnosed?
See how May Hegglin Anomaly is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of May Hegglin Anomaly
May-Hegglin Anomaly (MHA) is a rare genetic disorder characterized by abnormalities in the platelets, which are blood cells responsible for clotting. Diagnosing MHA involves a combination of clinical evaluation, laboratory tests, and genetic analysis.
Clinical evaluation: The first step in diagnosing MHA is a thorough physical examination and medical history review. The doctor will look for common signs and symptoms associated with MHA, such as easy bruising, nosebleeds, and recurrent infections. They may also ask about any family history of bleeding disorders.
Laboratory tests: Blood tests play a crucial role in diagnosing MHA. A complete blood count (CBC) is performed to assess the number and appearance of platelets. In individuals with MHA, the platelets may appear larger than normal and contain distinctive inclusions called Döhle-like bodies. Additionally, a blood smear may be examined under a microscope to further evaluate the platelet abnormalities.
Genetic analysis: Confirming the diagnosis of MHA often involves genetic testing. This typically involves analyzing a blood sample to identify mutations in the MYH9 gene, which is associated with MHA. Genetic testing can help differentiate MHA from other similar conditions and provide a definitive diagnosis.
In some cases, additional tests may be performed to rule out other potential causes of platelet abnormalities or to assess the overall function of the clotting system. These tests may include bleeding time tests, coagulation factor assays, or platelet aggregation studies.
It is important to note that diagnosing MHA can be challenging due to its rarity and the variability of symptoms. Therefore, consultation with a hematologist or a specialist in blood disorders is often recommended to ensure an accurate diagnosis.
