Summary about Disease
May-Hegglin Anomaly (MHA) is a rare genetic blood disorder characterized by thrombocytopenia (low platelet count), giant platelets, and the presence of Döhle body-like inclusions in leukocytes (white blood cells). These inclusions are composed of aggregates of myosin heavy chain protein. Many individuals with MHA are asymptomatic or have only mild bleeding tendencies, while others may experience more significant bleeding problems.
Symptoms
Symptoms can range from no symptoms to mild bleeding problems. Common symptoms include:
Mild to moderate thrombocytopenia (low platelet count)
Easy bruising
Prolonged bleeding after cuts or surgery
Nosebleeds (epistaxis)
Heavy menstrual periods (menorrhagia)
Giant platelets on blood smear
Döhle body-like inclusions in neutrophils (white blood cells)
Causes
MHA is caused by mutations in the MYH9 gene. This gene provides instructions for making a protein called nonmuscle myosin heavy chain IIA, which is important for cell structure, movement, and division, especially in blood cells. The *MYH9* mutations lead to abnormal myosin heavy chain production, which disrupts platelet formation and causes the characteristic features of the disorder. MHA is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.
Medicine Used
4. Medicine used There is no specific cure for MHA, and treatment focuses on managing symptoms, especially bleeding. Treatment options may include:
Platelet transfusions: Used in cases of significant bleeding or before surgery.
Desmopressin (DDAVP): May be used to improve platelet function in some individuals.
Aminocaproic acid (Amicar) or tranexamic acid (Lysteda): Antifibrinolytic medications that can help prevent or control bleeding.
Recombinant Factor VIIa (NovoSeven): May be used in severe bleeding episodes unresponsive to other treatments.
Thrombopoietin receptor agonists (TPO-RAs): Such as romiplostim or eltrombopag, may be considered in some cases to stimulate platelet production, but their use is not well-established for MHA.
Is Communicable
No, May-Hegglin Anomaly is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
Individuals with MHA should take precautions to minimize the risk of bleeding. These precautions include:
Avoiding medications that can interfere with platelet function, such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs).
Informing doctors and dentists about the condition before any procedures.
Taking extra care to avoid injuries that could cause bleeding.
Wearing protective gear during activities that could result in injury.
How long does an outbreak last?
MHA is not an "outbreak" type of illness. It is a chronic, genetic condition. Symptoms, such as bleeding episodes, can vary in duration and severity. The duration depends on the severity of the thrombocytopenia, the nature of the injury or event causing the bleeding, and the effectiveness of any treatment given.
How is it diagnosed?
Diagnosis of MHA typically involves:
Complete blood count (CBC): Reveals thrombocytopenia (low platelet count).
Peripheral blood smear examination: Shows giant platelets and Döhle body-like inclusions in neutrophils.
Genetic testing: To identify mutations in the MYH9 gene, confirming the diagnosis.
Bone marrow examination (rarely): May be performed to rule out other causes of thrombocytopenia.
Timeline of Symptoms
MHA is usually present from birth, although it may not be diagnosed until later in life.
Birth/Early Childhood: Low platelet count may be detected. Easy bruising and bleeding may occur.
Childhood/Adolescence: Symptoms such as nosebleeds and excessive bleeding after minor injuries may become apparent.
Adulthood: Symptoms persist throughout life. Women may experience heavy menstrual bleeding.
The severity of symptoms can vary over time, but the underlying genetic defect is always present.
Important Considerations
Genetic counseling is recommended for individuals with MHA and their families.
Regular monitoring of platelet counts is important.
Patients should carry identification indicating they have MHA in case of emergency.
It's important to differentiate MHA from other MYH9-related disorders, which can involve kidney disease, hearing loss, and cataracts, as MHA itself is not typically associated with these complications.
Awareness of bleeding risks before surgery or dental procedures is crucial.