Abnormal hemoglobinopathies

Introduction to abnormal hemoglobinopathy Abnormal hemoglobin disease is a genetic mutation (autosomal dominant inheritance) caused by a mutation in the globin gene, abnormal structure of the peptide chain or a synthetic disorder, resulting in one or more structural abnormalities of hemoglobin, partially or completely replacing the normal hemoglobin Such a group of diseases is called abnormal hemoglobin disease. basic knowledge The proportion of illness: 0.33% Susceptible people: no special people Mode of infection: non-infectious Complications: jaundice

Cause of abnormal hemoglobinopathy

The disease is caused by genetic defects (autosomal dominant inheritance), mutation of the globin gene, abnormal structure of the peptide chain or synthetic disorder, resulting in one or more structural abnormalities of hemoglobin, partially or completely replacing the normal hemoglobin.

Abnormal hemoglobin disease prevention

There are no more than a few kinds of abnormal hemoglobin. There are several cases in every 1,000 people in the population. Most of them do not have any symptoms. Some types of diseases are mild. Only a few types of diseases are serious and can even be life-threatening. Therefore, Most patients with abnormal hemoglobin should minimize their psychological burden and encourage patients to treat life correctly. However, patients with severe clinical manifestations should be advised to avoid fertility. If the patient insists on childbearing, he should be recommended to a special laboratory for further examination and identification. Variant types for prenatal diagnosis to ensure true eugenics.

1. Avoid taking oxidizing drugs.

2. If the wound is in communication with the facial nerve sinus, these wounds should be closed as soon as possible during debridement and suturing to reduce the chance of infection.

Abnormal hemoglobin disease complications Complications

Common complications may include mild jaundice, humeral bulge, nasal bridge collapse and widened eye distance, irregular heart rhythm, enlarged heart sounds, enlarged liver and spleen.

Abnormal hemoglobin disease symptoms Common symptoms Diarrhea anorexia purpura arterial oxygen saturation decreased jaundice

At present, there are more than 500 kinds of abnormal hemoglobin diseases found in the world according to chemical structure analysis. There are more than 80 kinds of abnormal hemoglobin diseases found in China, some of which have no clinical symptoms, and four are common in clinical practice:

1) sickle cell syndrome (hemoglobin S disease);

2) unstable hemoglobin;

3) increased oxygen affinity for hemoglobin;

4) Hemoglobin M (familial purpura).

Generally, there are symptoms of anemia, anorexia, stunting, and diarrhea and infection.

Examination of abnormal hemoglobinopathy

1. Blood: Hemoglobin <60g / L, small cell hypochromic anemia, red blood cell size and shape, target red blood cells more than 10%, visible red blood cell debris, reticulocytes increased, red blood cells contain inclusions, white blood cells and Platelets are normal or reduced.

2. Bone marrow: hyperplasia, red blood cell line hyperplasia, extracellular iron and iron granules increased.

3. Hemoglobin electrophoresis: hemoglobin F>30% (heavy -globin production disorder), hemoglobin Bart>80% (hemoglobin Bart fetal edema syndrome); electrophoresis appears hemoglobin H zone (hemoglobin H disease).

4. Conditional synthesis ratio and gene analysis of , globin peptide chain.

Diagnosis and identification of abnormal hemoglobin disease

diagnosis

(1) History and symptoms:

(1) Medical history questions: Note:

1 Whether there are the same patients in the parents and family;

2 age of onset;

3 growth and development status.

(2) Clinical symptoms

(2) Physical examination found

In addition to the appearance of anemia, there may be mild jaundice, humeral bulge, nasal bridge collapse and widened eye distance, irregular heart rhythm, enlarged heart sound tone, liver and spleen enlargement.

(3) Laboratory inspection

(4) Genetic diagnosis of abnormal hemoglobin disease

Abnormal hemoglobin disease is a type of hemoglobin molecular disease in which the globin gene of the globin gene is abnormal. The mutation of the globin gene includes: single base substitution, codon deletion and insertion, and frameshift mutation. Stopping mutations, fusion mutations (recoding of genes encoding two different peptide chains to form a fusion gene) can be diagnosed by DNA detection analysis and RNA detection analysis.

1. DNA detection and analysis.

2. RNA detection and analysis Direct determination of the RT-PCR product sequence of globin mRNA in abnormal hemoglobin patients can accurately identify the base changes in the coding region of the gene, and then derive the corresponding amino acid changes in the fetal chain.

3. Prenatal diagnosis of severe hemoglobin disease, timely termination of pregnancy is an important prerequisite for prevention, and has not been widely carried out in China.

It should be differentiated from iron deficiency anemia and other hemoglobinopathy.

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.