What is May-hegglin anomaly?

May-Hegglin Anomaly is a rare, inherited, blood platelet disorder characterized by abnormally large and misshapen platelets (giant platelets) and defects of the white blood cells known as leukocytes.

What is fechtner syndrome?

Fechtner syndrome is a rare autosomal dominant disorder consisting of macrothrombocytopenia and leukocyte inclusions, associated with Alport’s syndrome (hereditary nephropathy, sensorineural hearing loss, and ocular anomalies).

What is the cause of giant platelets?

Giant platelets are occasionally observed as an incidental finding in routine blood smear examina- tions. Most of them are due to acquired disorders such as idiopathic thrombocytopenic purpura (ITP) and myelodysplastic syndrome (MDS) (Table I). In contrast, inherited giant platelet disorders are rare.

What causes large giant platelets?

The giant platelets cause comes from a genetic abnormality. The gene responsible for the syndrome has been mapped to the short (p) arm of chromosome 17. If both parents carry the gene for Bernard-Soulier syndrome and transmit that gene to the child, the child will be born with the disorder.

What causes fechtner syndrome?

In families with Fechtner syndrome, an additional feature is inclusion bodies (Fechtner bodies) in leukocytes. These syndromes are caused by a mutation in the nonmuscle myosin heavy chain 9 gene(MYH9) on chromosome 22q12.

How many people have MYH9?

The incidence of MYH9-related disorder is unknown. More than 200 affected families have been reported in the scientific literature.

How do you fix giant platelets?

Platelet transfusion is the main treatment for people presenting with bleeding symptoms. There have been experiments with DDAVP (1-deamino-8-arginine vasopressin) and splenectomy on people with giant platelet disorders with mixed results, making this type of treatment contentious.

Is it okay to have giant platelets?

It is important for platelets to be able to stick to injured blood vessel walls. However, giant platelets are too big to stick properly. This means that clotting cannot happen properly. Therefore, people with giant platelet disorders tend to bleed excessively when injured.

Are giant platelets common?

Giant platelets can be seen in random normal patients, is a well known fact. But they are also common in certain ethnic groups, e,g, north eastern subcontinent.

How do you treat large platelets?

Your doctor might prescribe platelet-lowering drugs primarily in the form of hydroxyurea (Droxia, Hydrea) or interferon alfa (Intron A). Platelets can be removed from your blood by a procedure that’s similar to dialysis.

Are there any diseases associated with MYH9?

Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome.

How is Bernard Soulier syndrome diagnosed?

The diagnosis of Bernard-Soulier syndrome is made by a combination of blood testing to reveal whether platelets are at abnormally low levels (thrombocytopenia), microscopic examination to determine the presence of abnormally large platelets and irregularly shaped platelets, and a test called ‘flow cytometry, which is …

What happens when you have giant platelets?

Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to an injured blood vessel walls, resulting in abnormal bleeding when injured.

What does it mean when giant platelets are present?

What happens if you have giant platelets?

What do giant platelets indicate?

Large platelets can be seen when platelet turnover is increased (as in immune thrombocytopenic purpura). They may also be present in myeloproliferative neoplasms, myelodysplasia, and some congenital thrombocytopenia syndromes, including Bernard-Soulier syndrome and MYH9-related disorders.

Is Bernard-Soulier syndrome curable?

There is no specific treatment for Bernard-Soulier syndrome.

How do you treat Bernard-Soulier?

The most commonly used antifibrinolytic drug is tranexamic acid (also known as epsilon aminocaproic acid). Genetic counseling is recommended for people with Bernard-Soulier syndrome and their families. Other treatment is symptomatic and supportive.