What is thalassemia?

Thalassemia

What is thalassemia?

 Thalassemia is a genetic blood disease. Thalassemia symptoms are anemia, fatigue, 

edema, hepatosplenomegaly, and jaundice. Can thalassemia be cured? Thalassemia is mainly for prevention. Mild asymptoms do not require treatment. Severe thalassemia requires hematopoietic stem cell transplantation.

A must for family! Infants and young children daily medication guidance >>

What is thalassemia

What is thalassemia ? Thalassemia is a group of autosomal incomplete dominant hereditary diseases that cause changes in hemoglobin composition due to globin gene defects that cause one or more globin peptide chains in hemoglobin to be reduced or not synthesized . Globin having an oxygen carrying ability of the protein . In the body's hemoglobin in the blood and myoglobin in the muscle, once the globin content is reduced or the function is impaired, it will cause insufficient oxygen supply to the body tissues and cause symptoms of anemia.

Thalassemia symptoms

Light thalassemia disease is common in genotype heterozygous genotype, characteristic thalassemia is obvious symptoms, patients with asymptomatic or mild anemia, thalassemia beta] may be accompanied by mild splenomegaly, thalassemia [alpha] There were slight changes in morphology, such as varying in size, light staining in the center, and irregular shapes; the erythrocyte osmotic fragility was reduced. Mild thalassemia is often 

detected during a patient's physical examination.

Children with severe β thalassemia are asymptomatic at birth and begin to develop onset in 3-12 months. They are pale, have liver and spleen, have poor grammar, and are often accompanied by mild jaundice. They are characterized by enlarged skull, forehead, nose bridge collapse, Eye distance widens to form a special thalassemia face. Severe alpha thalassemia due to genetic defects leads to shortened life span of red blood cells, often causing abortion , stillbirth or premature babies at 30-40 weeks, and fetuses present with symptoms such as poisoning anemia, jaundice, edema, and hepatosplenomegaly.

Can thalassemia be cured?

Can thalassemia be cured? Thalassemia is mainly preventive, and mild asymptomatic treatment is not required. Severe thalassemia requires hematopoietic stem cell transplantation. Without hematopoietic stem cell transplantation, patients can only rely on blood transfusion and long-term use of iron removal agents to support life. Iron, even so, long-term blood transfusion, iron will be more and more deposited in the liver, spleen and other organs, and then cause these organs to fail and cause patients to die. And hematopoietic stem cell transplantation is also quite dangerous.

Pregnant women with severe thalassemia should pay special attention to it, and the fetus has severe thalassemia after examination. It is best to perform an abortion to terminate the pregnancy. If the results of the examination indicate that the fetus is genetically normal or is classified as mild thalassemia, then pregnancy can be resumed with peace of mind. Light no special treatment of thalassemia intermedia and thalassemia can take blood transfusions and iron to treat attention in normal life in rest and nutrition actively prevent infection, appropriate to add folic acid and vitamin E .

Is thalassemia inherited?

Carriers of light thalassaemia marry normal people, and their offspring have a 50% chance of becoming carriers of light thalassaemia. The marriage of static thalassemia and mild thalassemia has a quarter of a chance to give birth to children with thalassemia .

If the couple is a carrier of the same type of thalassemia gene, the fetus has a 1/4 chance of being normal, a ½ chance of being a gene carrier, and a 1/4 chance of being severe thalassemia patient. Both spouses carry different types of thalassemia genes, or only one of them carries thalassemia genes, and the children born will not have thalassemia.

Thalassemia gene

The globin in normal human hemoglobin contains four kinds of peptide chains, namely α, β, γ, and δ. These four kinds of peptide chains are combined into three kinds of hemoglobin. When genetic defects occur, the globin gene is deleted or point mutated, and globin synthesis is impaired, resulting in chronic hemolytic anemia. Thalassemia can be divided into α, β, γ, and δ isotypes according to the different peptide synthesis disorders , but α and β are the most common.

Thalassemia diet

I. Thalassemia Food Therapy:

Jianpi Yangxue Food Therapy

1. Oolong jujube soup. Take 50 grams of jujube, 20 grams of longan meat, 15 grams of Amomum villosum, and 1 black chicken. Add the right amount of water, season with oil and salt, simmer for 2 hours, eat meat and soup.

2, Cordyceps sinensis chicken. Use Cordyceps sinensis, 30 grams of Coix seed, 10 grams of Angelica sinensis, and one black chicken. Add the right amount of water, season with oil and salt, stew in water for 2 hours, and eat soup.

3, gelatin jujube porridge. Take 50 grams of glutinous rice, 10 grams of gelatin, 8 jujubes, and an appropriate amount of white sugar. Ejiao mashed; cook washed glutinous rice and jujube together, add Ejiao and white sugar when it is ripe, and cook for a while.

4, Cordyceps stewed skinny duck. Use 6 Cordyceps sinensis and 1 duck. Remove duck hair and internal organs, wash and cut into pieces, put in casserole, add Cordyceps sinensis and salt, spring onion, ginger and other spices, stew in an appropriate amount of water, first boil over high heat, then slowly simmer until cooked.

5, flavored lamb bone porridge. Take 750 grams of lamb bone, 50 grams of japonica rice, 20 grams of astragalus, and 7 jujubes. Wash and smash the lamb bones, put them into a casserole with astragalus and jujube, and cook with an appropriate amount of water. Cook soup with water and cooked rice to cook porridge. When the porridge is almost cooked, add the appropriate amount of ginger, green onion, and salt. Just fine. It should be taken on an empty stomach with warming and heating, for 15 days as a course of treatment.

6, peanut beef tendon porridge. Use 100 grams of glutinous rice, 80 grams each of peanut rice and beef tendon. Wash the tendons and cut into small pieces. Put them into the casserole with the peanut rice and the washed glutinous rice, add the right amount of water to cook the porridge, until the tendons are cooked, and the rice is cooked; It is advisable to take hot fasting eye foods once a day.

7, honey mulberry cream. Take 1000 grams of fresh mulberry and 25 grams of honey. The mulberry juice was washed, boiled on low heat to make a thin paste, and boiled with honey until thick, and then stored for cooling. Eat 2 times a day, take 10--15 grams each time with hot water, even for half a month as a course of treatment.

8. Red and black fungus soup. Use 10 red dates, 10 grams of black fungus, 6 grams of cabbage, and 5 grams of salvia. Wash your hair with warm water, add an appropriate amount of rock sugar and water, and steam for 1 hour. Take in divided doses, twice daily, morning and evening.

What foods are good for thalassemia:

1. Eat nutritious foods such as chicken, milk, eggs, etc.

2. Eat more foods rich in high-quality protein such as eggs, milk, fish, lean meat, shrimp and beans.

Third, what foods are best not to eat thalassemia: those that are spicy and thick, too fatty, cold and unclean, when fasting or eating less.

Examination of thalassemia

Differential diagnosis:

1. Fetal edema: It can also be seen in Rh or ABO blood group incompatibility. HbBart'S electrophoresis zone is the main basis for identification.

2. Iron deficiency anemia: This disease is also small cell hypochromic anemia, but serum iron is reduced, which is different from thalassemia .

3, other Hb diseases: HbE, HbC, etc. can also appear target red blood cells. However, both of them have abnormal electrophoretic zones that can be identified. The clinical manifestations of δβ ocean anemia, HbE-β ocean anemia heterozygous and homozygous-β ocean anemia are similar, but the symptoms are mild. Hereditary fetal Hb persistence syndrome also increased HbF, but the patient had no anemia.

4. Congenital hemolytic anemia: diseases such as congenital spherocytosis or erythrocyte enzyme deficiency can be identified through red blood cell fetal test and enzyme deficiency examination.

5. Acquired HbH disease, complicated by erythroleukemia, atypical chronic myelogenous leukemia, iron granulocyte anemia, acute myelogenous leukemia, myeloproliferative disease, aplastic anemia, acute lymphocytic leukemia, etc. The ratio of a / β peptide chain is significantly lower than 0.3-0.62 of hereditary HbH disease.

6, HbF and HbA2 increased: some aplastic anemia, acute leukemia, especially in young "chronic myelogenous leukemia" patients with increased HbH, HbZürich and Tocoma and other diseases, HbA2 can also increase, should pay attention to identification.

Key points for diagnosis:

I. Progressive anemia begins shortly after birth (mild but without anemia), jaundice occurs when hemolysis is severe, craniofacial bone has a special face (large head, widened eyebrows, flat nose, flat cheekbones), and hepatosplenomegaly .

Second, often have a family history.

Third, laboratory inspection

(1) It has small cell hypochromic anemia, uneven red blood cell size, irregular shapes, target red blood cells (may be 0-66%), and increased reticulocytes.

(2) Reduced brittleness of red blood cells.

(3) Analysis of hemoglobin The HbF content of patients with severe and intermediate b thalassemia was significantly increased, and the anti-alkaline hemoglobin could be above 40%. HbA2 levels increased in children with mild b thalassemia. Children with HbH disease or Barts' fetal edema syndrome have increased levels of HbH and Hb Bart's, respectively.

4. X-ray examination showed that the bone marrow cavity of the metacarpal and phalanx of infants widened, and the long bone cortex became thinner. Later, the skull bone plate became thinner and there were radial spurs between the skull plates.