What is thalassemia What are the clinical manifestations
Thalassemia is hemolytic anemia in a large type. As the first in Italy, Greece and other Mediterranean region and the nation as descendants of immigrants found in the disease, then called “Mediterranean anemia.” In addition to the Mediterranean region later found, other clinical areas to the sea is also a high incidence area of the disease, known as “thalassemia.”
Thalassemia is due to autosomal genetic defects, the cause-linked protein peptide synthesis obstacles, so that one or more of the protein peptide-linked inadequate or complete lack of volume, resulting in such-linked protein involved in the synthesis of hemoglobin reduction. - Protein linked to the amino acid sequence does not in itself unusual. Where α-linked protein synthesis inhibition, called the “α thalassemia”; β-linked protein synthesis inhibition, called “β thalassemia.” Mediterranean, the Middle East, Arab, India, Southeast Asia β thalassemia incidence of the highest in Southeast Asia, including South China α thalassemia is the high incidence area. China’s Guangdong, Guangxi, Sichuan, and Taiwan provinces α β thalassemia are more common, south of the Yangtze River provinces such as Zhejiang, Fujian, Jiangsu, Shanghai, Guizhou, Jiangxi, Hubei, and so have reported sporadic cases. Because of different genetic defects, the performance of the severity of the disease is very different, in fetal and infant and child that is due to the heavy death of hemolytic anemia, abnormal hemoglobin Although there are no life and clinical symptoms.
Thalassemia genotype and phenotype are diversified, very different. Often based on clinical signs and symptoms of the severity of light into the middle-and heavy-duty, and genotypes can be divided into heterozygous and homozygous type. General heavy homozygous for sure, for sure light heterozygous, and the intermediate type includes many different genetic basis of diseases, including lighter and heavier homozygous heterozygotes β thalassemia and hemoglobin H disease and α and β Thalassemia heterozygous, and so on.
1. Homozygotes thalassemia
Infancy (Health after 6 to September) incidence, anemia, looking pale, jaundice, weight loss, abdominal gradual uplift, sexual enlarged liver and spleen. Because of growth retardation can form a special appearance: first, for the top, occipital uplift, prominent cheeks, nose Diping, two distance widened. Systemic change throughout the skeleton, mainly due to significant long-term bone marrow hyperplasia, the bone marrow cavity wider, bone thinning. Most patients died at an early age that is, the cause of death for many infections, advanced blood disease caused by organ damage. If survival in sexual development period, often because of obstacles without the Second Sex levy, other than common endocrine dysfunction. Patients often splenomegaly, Hypersplenism while WBC, thrombocytopenia, a variety of infections and bleeding.
2. Heterozygous thalassemia
Most patients with asymptomatic, a small number of patients with regular flu fatigue, may have mild anemia, splenomegaly. Normal growth and development, no bones change, the general census in the family or when the investigation found. Low pigment anemia. Tablets can see the target blood cells, red blood cells to reduce infiltration brittle, basophils, Choi cells increased, HbA2 slightly higher. Hyperplasia of red bone marrow cells increased slightly, iron staining iron tablets David cells increased.
3. Intermediate thalassemia
Middle-thalassemia contain the genetic basis of many different kinds of patients. Varying degrees of anemia, spleen mild to moderate swelling, bone marrow can have mild to change. Such patients often need long-term blood transfusion to maintain life. But still the later development of mature, the majority of patients can survive to adulthood.
4. Hemoglobin H disease (α + thalassemia)
Most patients in the 1-year-old symptoms began to appear, mainly for the performance of H gradually increased hemoglobin, mild to moderate chronic anemia, intermittent mild attack of jaundice, about 2 / 3 patients hepatosplenomegaly. Due to infection or other reasons may increase anemia, generally without stunting, bone changes very light. Common with cholelithiasis.
5. Bart’’s fetal hemoglobin edema syndrome (α thalassemia)
30 to 40 weeks of pregnancy, abortion fetal death or premature death. Fetal body edema, pale, hepatosplenomegaly, ascites, chest and also often pericardial effusion, heart expand, mild jaundice. Placenta large and fragile. Tablets RBC low blood pigment, irregular size, contour, and other significant changes, the target cell and a lot of cells. Reticulocyte significantly increased. Hyperplasia of red bone marrow cells significantly increased, hemosiderosis Obviously, extramedullary hematopoiesis significant.
6. Geostationary α-thalassemia and standards α-thalassemia
Static α thalassemia is α + α with the normal gene heterozygous, with no clinical symptoms. Standard α thalassemia is α. Α gene with the normal gene homozygous, there is no clinical symptoms of patients. However, a slight blood cells to change shape, and so on.
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