May Hegglin anomaly
May-Hegglin Anomaly
May-Hegglin Anomaly (pronounced: may heg-lin a-nom-a-ly) is a rare autosomal dominant disorder characterized by thrombocytopenia, large platelets, and Döhle bodies in leukocytes. The condition is named after the scientists Richard May and Robert Hegglin who first described it.
Etymology
The term "May-Hegglin Anomaly" is derived from the names of the two scientists who first described the condition, Richard May and Robert Hegglin. The term "anomaly" is used to denote a deviation from the normal.
Symptoms
The primary symptoms of May-Hegglin Anomaly include thrombocytopenia, or low platelet count, and the presence of large, abnormal platelets. Individuals with this condition may also have Döhle bodies, which are small, blue-gray inclusions seen in certain types of white blood cells, specifically neutrophils.
Diagnosis
Diagnosis of May-Hegglin Anomaly is typically made through a complete blood count (CBC) and a blood smear test. These tests can reveal the characteristic low platelet count and large, abnormal platelets. The presence of Döhle bodies can also be confirmed through these tests.
Treatment
There is currently no cure for May-Hegglin Anomaly. Treatment is typically focused on managing symptoms and preventing complications. This may include platelet transfusions to increase platelet count or medications to stimulate the production of platelets.
Prognosis
The prognosis for individuals with May-Hegglin Anomaly is generally good. While the condition can cause complications such as bleeding, these can usually be managed with treatment. Most individuals with this condition live normal, healthy lives.
See Also
External links
- Medical encyclopedia article on May Hegglin anomaly
- Wikipedia's article - May Hegglin anomaly
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