Thalassemia (congenital hemolytic)

Thalassemia (congenital hemolytic)'s disease overview

What is

thalassemia?

Thalassemia (also known as congenital hemolytic disease ), is a genetic hematology related to the abnormalities of hemoglobin (a structure protein in red blood cells has oxygen transport function). In Thalassemia patients, the red blood cells are excessive, leading to anemia.

Thalassemia is a diving genetic disease on normal chromosomes. Therefore, Thalassemia has serious consequences to the race, affecting the lives of patients and the whole community.

Thalassemia epidemiology

Thalassemia is the most common hemorrhage in the world, in which the Mediterranean, Middle East, Asia -Pacific are areas with high incidence and carrying genes. Thalassemia disease appears in both men and women. The percentage of people carrying the disease gene is about 7% of the world's population, of which about 1.1% of couples are at risk of giving birth to a child or a thalassemia gene, estimated at about 300,000 to 500,000 babies each year. Thalassemia is severe.

In Vietnam, Thalassemia has been recorded since 1960, currently there are about 10 million people carrying the disease gene, about 20,000 people with severe thalassemia, estimated that about 2000 babies born each year with Thalassemia disease. The disease is distributed across the country, more common in ethnic minorities, mountainous provinces, plateau: The ratio of Thalassemia's gene to the Muong ethnic group is about 22%, the ethnic groups of Ede, Tay, Thai, Thai, ... over 40%, while this ratio is about 2-4%.

Causes of Thalassemia (congenital hemolytic)'s disease

pathology of Thalassemia

Hemoglobin consists of 2 components: Hem and Globin, in the globin consisting of polypeptide chains. Thalassemia occurs when there is a mutation in one or more genes related to the synthesis of globin chains, leading to the shortage of these globin chains, causing early red blood cells (hemolytic), and symptoms of symptoms Anemia. Patients with Thalassemia may receive a disease gene from parents, or both parents.

The disease is named after a defect globin string, including 2 main types of thalassemia:

  • α-thalassemia : The α chain synthesis deficiency, due to mutations at one or more α-globin chain synthesis genes.
  • β-thalassemia : The chain synthesis deficiencies, due to mutations at one or more chain synthetic genes β-globin.

    • Symptoms of Thalassemia (congenital hemolytic)'s disease

    Thalassemia patient can be admitted to the hospital with signs such as:

  • People tired, dizzy.
  • pale, pale skin; Can jaundice, yellow eyes.
  • Dark yellow urine
  • Difficulty breathing.
  • Children grow slowly grow

    • What are the symptoms of Thalassemia?

    α-thalassemia

  • mild (hidden): usually no symptoms, if any, only causes mild anemia. Often only detected when there are conditions attached or in periods of the body increases blood demand such as pregnancy, multiple menstruation, ...
  • Hemoglobin h: Causes jaundice, large spleen, poor nutrition. Can cause deformations on bones: cheeks, forehead, jaws can grow excessive.

    • Pregnancy: Most babies with thalassemia can die at birth or death.

    β-thalassemia

  • mild: usually there are no symptoms, if any, it only causes mild anemia.

    • Intermediate body: manifests itself with similar symptoms to be severe but less severe and progresses slower. There is often a clear anemia when a child is over 6 years old, and at this time, it is necessary to transmit blood. However, if not treated, complications can also occur in intermediate thalassemia patients. heavy body: usually appear early, maybe immediately after birth, rarely appear after 2 years of age. The disease is most evident in the 4th - 6 months with serious anemia and getting worse, being life -threatening. There may be jaundice and eyes; spleen; Frequent infections. The heavy thalassemia requires many times.

    If adequate blood transfusion, children can develop normally until 10 years old. After that, complications may appear such as:

  • Face deformity on the face, flat nose, teeth; Osteoporosis, fracture.
  • Dark skin, yellow eyes.

    • gallstones.

  • Late puberty in women.
  • Physical retardation
  • Cardiovascular complications: heart failure, arrhythmia, ...

    • Transmission route of Thalassemia (congenital hemolytic)'s diseaseThalassemia (congenital hemolytic)

    Thalassemia disease is not an infectious disease such as viral hepatitis, tuberculosis, etc. Therefore, Thalassemia disease is a family disease.

    People at risk for Thalassemia (congenital hemolytic)'s disease

    People living in epidemiological areas of the disease such as the Mediterranean, the Middle East, Asia, Africa are the objects that are likely to suffer from Thalassemia.

    The risk of disease will increase if there are people in Thalassemia, or originated from Africa (especially African -American), or Southeast Asia, Mediterranean. P>

    Prevention of Thalassemia (congenital hemolytic)'s disease

  • Screening for early detection: Pre -marital advice, especially those of the risk group of the disease, need advice and tests to detect Thalassemia disease. early. If both husband and wife carry a thalassemia disease, should be advised before intending to become pregnant.
  • Prenatal screening, especially for couples who have a pregnant Thalassemia disease, should do screening tests and diagnosis of mutant gene during pregnancy 12 - 18 weeks. The method of implementation may be amniocentesis or biopsy to find gene mutations (if any).

    • Diagnostic measures for Thalassemia (congenital hemolytic)'s disease

    Thalassemia is diagnosed based on:

    Clinical signs and symptoms

    patients often go to the hospital with clinical signs and symptoms (as shown above). It is important to recognize early signs to seek medical attention, so that it is possible to detect the disease as soon as possible and timely treatment.

    Clinical examination

    The doctor will be the examiner, detect clinical physical symptoms, thereby appointing tests for disease diagnosis.Subclinical

  • Total peripheral blood cell analysis: small red blood cell anemia, beer -shaped red blood cells, Reticulocyte increased; leukocytes and platelets decrease when spleen.

    • indirect bilirubin, iron and ferritin: increase.

  • X-ray: Brush picture, wide marrow.

    • Hemoglobin: HBF increases, HBA2 increases, HBA1 decreases, may have HBH or HBE

  • DNA test: Determine the exact gene characteristics related to the synthesis of the globin chain in Thalassemia.

    • Thalassemia (congenital hemolytic)'s disease treatments

    How is Thalassemia patient treated?

    Anemia treatment
  • Indications: Patients with blood transfusion prescribed when 2 tests shows HB <7g/dl, or HB> 7g/DL but have bone deformation.
  • Blood transfusion: Patients with red blood cell transfusion, new blood, amount of 10ml/kg for 2-3 hours. The frequency of blood transfusion can be every 4-6 weeks depending on the extent. Patients should be closely monitored during the blood transfusion process at the hospital.
    • Purpose: Maintain HB> 10g/DL, help children develop normally, avoid bone deformation. iron stasis treatment
  • Indications for iron excretion is set in children over 3 years old, when ferritin serum> 1000ng/ml
    • Purpose: Prevent damage to iron -stasis, especially heart and endocrine.

    Desferoxamin injected under the skin 30-50mg/kg for 8-12h × 5-7 days/week, or intravenously at blood transfusion.

  • Attention to monitor vision and hearing every year.
    • Spleen cut
  • Indications: Thalassemia is heavy, powerful spleen (spleen enlargement, reducing 3 lines ).
  • complications after spleen cutting: infection, obstruction.
    • Support treatment
  • Vitamin C
  • Vitamin E

    • Folic acid Bone marrow transplant

    is a modern method for good results in Thalassemia treatment. However, bone marrow transplantation is limited to finding people for appropriate stem cells.

    Track
  • hemoglobin 1 month/time.
  • Height, weight every 3 months.

    • Ferritin every 6 months.

  • Check cardiovascular, endocrine, ears, eyes; Calculate the amount of blood transmission, iron emissions 1 year/time

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