1, ask the patient's gender, age, height, intelligence, etc. , as well as his living environment, onset time, onset age, whether he has received blood transfusion, time and frequency. Ask the patient's family history and make a genealogical analysis chart (if it is a genetic disease). Check the patient's special condition and do some necessary laboratory tests.
2, gene diagnosis, extracting the patient's DNA for further diagnosis and determining the disease type.
3. If it is a genetic disease, parents need to make genetic diagnosis and determine the pathogenic gene.
If the couple want to have another child, they should be told to have prenatal diagnosis.