May-Hegglin Anomaly
What is May-Hegglin Anomaly?
May-Hegglin Anomaly is a rare inherited blood disorder that affects your platelets. Platelets are tiny blood cells that help your blood clot when you get injured. People with this condition have fewer platelets than normal, but the platelets they do have are unusually large.
This condition also causes unusual protein structures called Döhle-like inclusions to appear inside white blood cells. White blood cells are part of your immune system and help fight infections. Despite having lower platelet counts, most people with May-Hegglin Anomaly do not experience serious bleeding problems. This is because their larger platelets often function well enough to prevent excessive bleeding.
May-Hegglin Anomaly is passed down through families in an autosomal dominant pattern. This means if one parent has the condition, each child has a 50 percent chance of inheriting it. Many people with this condition live normal lives with few or no symptoms.
Symptoms
- Easy bruising or bruises that appear without injury
- Nosebleeds that occur more frequently than normal
- Prolonged bleeding from minor cuts or dental work
- Heavy menstrual periods in women
- Small red or purple spots on the skin called petechiae
- Bleeding gums when brushing teeth
Many people with May-Hegglin Anomaly have no symptoms at all. The condition is often discovered during routine blood work done for other reasons. Some people only notice mild bruising or occasional nosebleeds throughout their lives.
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Causes and risk factors
May-Hegglin Anomaly is caused by mutations in the MYH9 gene. This gene provides instructions for making a protein called non-muscle myosin heavy chain IIA. This protein plays an important role in the structure and function of platelets and white blood cells. When the gene is mutated, it leads to abnormally large platelets, lower platelet counts, and the characteristic protein inclusions in white blood cells.
The condition is inherited in an autosomal dominant pattern. This means you only need to inherit one copy of the mutated gene from one parent to have the condition. If you have May-Hegglin Anomaly, each of your children has a 50 percent chance of inheriting it. In some cases, the mutation occurs spontaneously without any family history. There are no lifestyle or environmental risk factors that cause this condition.
How it's diagnosed
May-Hegglin Anomaly is diagnosed through blood tests that measure platelet count and examine blood cell appearance. A complete blood count, or CBC, will show a lower than normal platelet count. When a lab technician examines your blood under a microscope, they can see the characteristic giant platelets and Döhle-like inclusions in white blood cells. These distinctive features help distinguish May-Hegglin Anomaly from other platelet disorders.
Rite Aid offers platelet count testing as part of our flagship blood panel. You can get tested at over 2,000 Quest Diagnostics locations nationwide. If your platelet count is low, your doctor may recommend additional specialized tests or genetic testing to confirm the diagnosis. Early detection helps you and your healthcare team monitor your condition and take precautions before surgeries or dental procedures.
Treatment options
- Regular monitoring of platelet counts through blood tests
- Avoiding aspirin and other medications that affect platelet function
- Informing all healthcare providers about your condition before procedures
- Using caution during contact sports or activities with high injury risk
- Applying pressure to cuts and wounds for longer periods to stop bleeding
- Platelet transfusions before surgeries or dental procedures if needed
- Medications like desmopressin to temporarily improve clotting in some cases
- Hormonal treatments to manage heavy menstrual bleeding in women
Concerned about May-Hegglin Anomaly? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
May-Hegglin Anomaly is unique because it causes giant platelets along with Döhle-like inclusions in white blood cells. Most other platelet disorders do not have these specific characteristics. The large platelets in May-Hegglin Anomaly often function well enough to prevent serious bleeding despite low counts. This makes it less severe than many other inherited thrombocytopenias.
May-Hegglin Anomaly is typically stable throughout life. Platelet counts usually remain consistently low but do not progressively decline. Most people do not develop worsening symptoms as they age. However, regular monitoring is important to track any changes and adjust care if needed.
Surgery is generally safe with proper precautions and planning. You should always inform your surgeon and anesthesiologist about your condition before any procedure. Your healthcare team may recommend platelet transfusions before or during surgery to reduce bleeding risk. Many people with May-Hegglin Anomaly undergo successful surgeries without complications.
Platelet counts in May-Hegglin Anomaly typically range from 40,000 to 80,000 per microliter. Normal platelet counts range from 150,000 to 400,000 per microliter. Despite these lower numbers, the large size and good function of platelets help maintain adequate clotting. Severe bleeding is uncommon with counts in this range.
If you have May-Hegglin Anomaly, each of your children has a 50 percent chance of inheriting it. The condition follows an autosomal dominant inheritance pattern, meaning only one copy of the mutated gene is needed. Genetic counseling can help you understand your family's specific risks. Testing during pregnancy is available if you want to know if your baby will have the condition.
Blood donation with May-Hegglin Anomaly depends on your specific platelet count and overall health. Many blood donation centers require platelet counts above certain thresholds for safety. You should discuss blood donation with your healthcare provider and inform the donation center about your condition. They can determine if donation is safe for you.
Most people with May-Hegglin Anomaly do not need daily medications. Treatment is usually only needed before surgeries or dental procedures, or to manage specific bleeding episodes. Women with heavy menstrual bleeding may benefit from hormonal treatments. Your doctor will recommend medications based on your individual symptoms and needs.
May-Hegglin Anomaly primarily affects platelets and white blood cells. Some research suggests it may be associated with a slightly increased risk of kidney problems or hearing loss in rare cases. However, most people with the condition do not develop these additional issues. Regular check-ups help monitor for any related health concerns.
Most people with May-Hegglin Anomaly should have their platelet count checked at least once a year. More frequent testing may be needed if you have symptoms or before planned surgeries. Rite Aid offers convenient platelet count testing twice per year as part of our blood panel subscription. Regular monitoring helps you and your doctor track any changes in your condition.
You should avoid aspirin and nonsteroidal anti-inflammatory drugs like ibuprofen, as these can impair platelet function. Contact sports and high-risk activities may need extra caution to prevent injuries. Always inform healthcare providers about your condition before any procedures or new medications. Alcohol in excess can also affect platelet function and should be limited.