Heterozygous SEA gene deletion was detected. Is it serious?

Condition analysis: Not serious, this is the genotype of mild α-thalassaemia. Humans have four α-globin genes. SEA deletion causes patients to lose two of them, but the other two are normal (heterozygotes are generally normal and sometimes abnormal), so they are still mild. People may have mild anemia but usually have no other problems.

Opinions and suggestions: It should be noted that the patient's spouse should be thoroughly checked for thalassemia before the woman becomes pregnant or at the beginning of pregnancy. Normal blood routine cannot be used as a basis to exclude the spouse from suffering from thalassemia.

Using molecular biology methods to detect fetal DNA in the plasma of pregnant women can predict whether families with α-thalassemia will have children with this hereditary blood disease.

This research report was published in the 22nd issue of "Chinese Medical Journal" in 2007, titled "Prenatal genetic diagnosis of paternal α-thalassemia using fetal DNA in maternal plasma". The first author is Guangxi Medical University Dr. Chen Ping from the Hemoglobin Research Laboratory of the First Affiliated Hospital. This research is a project funded by the Science Fund of the Science and Technology Department of Guangxi Zhuang Autonomous Region. Because this disease was first discovered in Italy, Greece and other Mediterranean regions and among the descendants of their immigrants, it was called "thalassemia" (referred to as thalassemia) at that time. Hereditary hemolytic anemia is caused by an autosomal genetic defect.

According to the different sites where genetic problems occur, it is divided into "α-thalassaemia" and "β-thalassaemia". Among them, hemoglobin H disease (HbH) is a type of α-thalassaemia. Children with 1 Symptoms begin to appear around the age of 12, with the main manifestations being a gradual increase in hemoglobin H, mild to moderate chronic anemia, and intermittent episodes of mild jaundice. About 2/3 of patients have hepatosplenomegaly. Anemia can be aggravated by infection or other reasons, and cholelithiasis is common. Guangxi is a high-incidence area of ??α-thalassemia in my country, with an incidence rate of 15%.