Rare disease 'MYH-9' also in Nepal

'MYH9' (myosin heavy chain-9) mutation was found in Aviral's gene. This puts her at a higher risk of bleeding. Because of this mutation, more than 40 percent of the platelets in his blood are larger than normal. Because of this, bleeding from somewhere can cause problems in stopping. He was born with this problem. According to America's Genetic and Rare Disease Information Center (GERD), this is a rare genetic disease in the world. Because this disease is rare and misdiagnosed in most cases, there is no accurate data on the number of patients in the world. The disease is caused by a 'MYH9' mutation in the gene. However, not everyone who has the mutation has this problem. This problem can be seen in one family member.

His father said that blood-related problems have not been seen in anyone in the family except Abarat. According to him, none of the members of Ghar and Aviral's Mawli had this type of illness. "Only my father has this problem, that too in his eldest son," he said, "We are treating him according to the doctor's suggestion." Generally, the amount of platelets in the body should be 150,000 to 450,000 per microliter of blood. However, when this number decreases to less than 30,000, the risk of bleeding is high in such people. In such cases, platelets may be given under the supervision of a physician.

In most cases, doctors misdiagnose it as a type of blood 'idiopathic thrombocytopenia purpura' (ITP). ITP also has a fear of bleeding due to lack of platelets in the blood. If this disease occurs in children, it is completely cured after drug treatment. However, diseases associated with MYH-9 can be controlled but not completely cured.

Aviral's father runs a general business in western Nepal. According to him, symptoms started appearing since Aviral was about two and a half years old. At that time father got fever. We examined a doctor here and gave him medicine," he said. "Since then, the number of platelets in his blood was less than normal." According to Aviral's father, until he was about 5 years old, there was no major problem in him. Sometimes a blue stain was seen on the body. They didn't ask much about the reason for low platelets,' he said, 'We didn't let him mingle with other children because he was weaker than other children.' was The platelets were very low when he was examined for hernia surgery. I brought him to Kathmandu for further treatment as surgery was not possible at that time," he said. "Initially, treatment was given at the International Children's Friendly Hospital for some time. When he was not there, he was admitted to Om Hospital.'

According to him, the doctors in both hospitals gave Aviral medicine for lack of blood platelets. However, despite being given medication for two years, his blood did not have the required amount of platelets for surgery. "Even when he was 7 years old, surgery could not be done," Aviram's father said, "On the one hand, the platelets did not increase. On the other hand, because of the drugs given to increase the platelets, the father became obese. Ekta became very fat.'

He continued to gain weight and began to look different from his age. On top of that, after the doctors said that there is a risk of bleeding if there is any injury, the parents also stopped mixing with other children. While other children of his age ran around and played, he would either sit quietly and watch, or watch TV. Even after starting school, his parents asked the teachers not to let him play with others. It is still going on. It is embedded in his brain that he should not play outside with others.

"It became routine to draw blood and check platelets every week," Aviral's father said, "When I heard that blood-related diseases would be treated at the civil hospital, I took him to see him once." That's where it became clear what happened to the father. Bone marrow transplant and blood disease specialist Prof. Dr. Special According to Paudyal, Aviral was brought for a second consultation after the platelets did not increase even after long-term steroids for ITP. "Before he was brought here, he was given steroids for a long time on suspicion of ITP. After it did not improve, I started another medicine,'' he said. After that, we started to think that there might be some other disease.'

According to him, at first, attention was focused on making it possible to perform hernia surgery by increasing platelets. After the surgery, the diagnosis of the disease is started. “He just had a low platelet count. Other general blood tests also appeared normal. His pheo was also fine," he said, "but sometimes when he came to check, his parents said that his eyes and ears seemed to have less hearing, so I decided to do a genetic test to see if it was a genetic problem. After that, his problem was confirmed - it is a disease related to MYH9 mutation. Prof.Dr. According to Paudyal, this disease is so rare that about 300 families in the world have this type of mutation and it has been mentioned in scientific journals. Similarly, as mentioned in Orphanet, which provides information about rare diseases, this disease occurs in 1 to 9 people per 1 million.

Pvt. Dr. According to Paudyal, even a few years ago, there was no disease called thalassemia in Nepal. However, now thousands of people with that disease are found in Nepal. Likewise, thousands of the indigenous Tharu community of Nepal are suffering from sickle cell anemia, which is considered rare in other developed countries of the world. Therefore, he reasoned that if this disease is diagnosed correctly, patients can be found.

"The first thing is that a child has a lack of platelets and if it does not increase even after giving steroids for a week, we should think about whether there is some other problem," he said, "Generally, it is not good to give too many steroids to children." It has its own side effects. According to him, a genetic test should be done to find out if there is/is not MYH mutation. NGS (Next Generation Sequencing) should be done to confirm this. For that, there is no option to send the sample to India," he said, "if NGS test is done in at least one large government laboratory in Nepal, not only this but also other types of genetic diseases can be detected in time."

What is MYH9 mutation related disease?

Non-muscle myosin heavy chain 9-related disorder (MYH9-RD) is a rare autosomal dominant (disordered gene passed from parent to child) syndrome. It has larger platelets, which causes the number of platelets in the blood to be lower than normal. People with this problem have a risk of mild to moderate bleeding, while over time there is a risk of kidney problems (nephropathy), sensorineural deafness (inner ear problems), cataracts in childhood and changes in liver enzymes in childhood or adulthood.
Prof.Dr. According to Paudyal, even though there is not much difference in the normal life expectancy of the patient due to this disease, the risk remains due to sudden bleeding. In addition to this, the quality of life of patients in a country like Nepal may also deteriorate due to deafness, cataracts and kidney problems.


Diagnosis of MYH9 requires examination by a skilled pathologist in a well-equipped laboratory . In which accurate assessment of the level of thrombocytopenia, abnormal size of platelets, identification of macrothrombocytes, and neutrophils is necessary to rule out specific changes . As stated on the website of Opranet and the National Organization for Rare Diseases (NORD), which is operated to provide information on rare diseases, despite the high sensitivity, the test that can identify it may not be available in the laboratories where most blood-related diseases are diagnosed.

Prof.Dr. According to Paudyal, in his own experience, it is very difficult to diagnose this disease at the beginning because it is similar to many types of problems. "All the symptoms as written in the journal are not seen in the same way in all patients," he said, "in some people, the problem starts to appear in childhood due to this mutation, like Aviral, while in many, this problem may appear after getting older."
According to him, with the MYH9 mutation. Other associated disorders include Epistein syndrome, Fechner syndrome, May–Haeglin anomaly, and Sebastian syndrome. All the above mentioned are inter related diseases. A patient may have all kinds of problems, some may have one and some may have this mutation, but no major problem may be seen," he said .