Hemoglobin D disease

Introduction to hemoglobin D disease Hemoglobin D actually includes a variety of abnormal hemoglobin. The letter D indicates any variation in alkaline pH electrophoresis with HbS electrophoresis but normal solubility. HbDPunjab22121 glutamine is the most common variant in HbD, including HbDLosAngeles (22121Valley Amine), HbDBushman (2216fine), HbDWashington (2268 Lai), my domestic Mongolian patients have HbD Inner Mongolia, HbD Baotou, HbD Wulan. basic knowledge The proportion of illness: 0.01% - 0.05% Susceptible people: no special people Mode of infection: non-infectious Complications: hemolytic anemia

Cause of hemoglobin D disease

Abnormal and chains (30%):

Chemical analysis showed that HbD includes a variety of different properties of hemoglobin. At least 11 -chain anomalies and 6 -chain abnormalities have been found. The most common HbD Punjab is 22121 valleyglutamine, and HbD LOS Angeles is 2212glutamine. In China's Mongolian population, there are -chain abnormalities causing HbD, such as HbD Inner Mongolia, the presence of HbD reduces the deformability of red blood cells, which can cause hemolytic anemia.

Pathology (30%):

Hemoglobin D disease is a disease caused by a point mutation in the globin gene, an amino acid in the -globin chain is replaced by another amino acid, and the properties and functions of hemoglobin are changed. Hemoglobin C is a mutation of the -globin gene. An abnormal hemoglobin in which glutamic acid at the 6th position of the -globin chain is substituted with lysine.

Hemoglobin D disease prevention

Mainly timely found timely treatment. In normal life, timely detection of timely treatment. Because hemoglobin D disease is a genetic mutation, it can be considered from the environmental perspective, that is, the impact of the environment on phenotype, and various environmental factors, even if you are not too concerned, will have a certain impact on your phenotype (that is, traits). Note: This effect is not necessarily negative, it may be a manifestation of adapting to the environment. Of course, if you prevent harmful genetic mutations, you need to pay attention to the usual living environment, try to live in a place with less noise, radiation, pollution, and develop good work habits, which can reduce the probability of genetic mutation.

Hemoglobin D disease complications Complications hemolytic anemia

Hemolytic anemia: An type of anemia that occurs when red blood cell destruction is accelerated and bone marrow hematopoietic function is insufficiently compensated. If the bone marrow can increase erythropoiesis and is sufficient to compensate for the shortened survival of red blood cells, no anemia will occur. This state is called compensatory hemolysis.

Hemoglobin D disease symptoms common symptoms

Symptoms and signs, HbD Punjab homozygous, may have mild hemolytic anemia, mild or moderate splenomegaly, but most of them have no symptoms and signs.

Examination of hemoglobin D disease

1. Peripheral blood: HbD homozygote can have laboratory results of mild hemolytic anemia. Target red blood cells and spherical red blood cells can be seen in blood samples. HbD heterozygous hemoglobin is normal, and a small amount of target red blood cells can be seen.

2. Hemoglobin electrophoresis: HbD accounts for more than 95% of hemoglobin, and hemoglobin electrophoresis shows that HbD accounts for 35% to 50% of hemoglobin.

Diagnosis and identification of hemoglobin D disease

Diagnosis is based on clinical manifestations, particularly hemoglobin electrophoresis.

The position of alkaline pH electrophoresis is the same as that of HbS. It should be differentiated from the scorpion cell trait. When the pH is 6.2, the speed of HbD and HbA is the same as HbS, which can be separated from HbS. In addition, the solubility of HbD is normal and the experiment is negative. Can also be distinguished from sickle cell traits.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.