Alpha-Mediterranean anemia gene diagnosis kit (gap-PCR) related presentations

Alpha-Mediterranean anemia gene diagnosis kit (gap-PCR) is capable of α- thalassemia (α- thalassemia ) make a genetic diagnosis kit and its application. The diagnostic kit is to use the principle of double-stranded DNA specific fluorescence real-time fluorescence quantitative PCR (FQ-PCR) combined with melting curve analysis (MC) to detect α- thalassemia various haplotypes can be detected simultaneously without any missing alleles ( ie αα /, including α).
α -thalassemia
1 . Stationary patients are asymptomatic . Normal red blood cell morphology , cord blood at birth Hb Bart's content is 0.01 to 0.02 , but disappeared after 3 months .
2 . Lightweight asymptomatic patients . Mild red blood cell morphology changes, such as size, central light staining , shaped , etc. ; reduce red button cell osmotic fragility ; denatured globin -positive ; HbA2 and HbF levels normal or slightly lower . Children with umbilical cord blood Hb Bart's content was 0.034 ~ 0.140 , at 6 months after birth and disappears completely .
3 . Intermediate , also known as hemoglobin H disease . This type of clinical manifestations are quite different time anemia and anemia of varying severity . Mostly in infancy and then gradually anemia, fatigue, weakness, hepatosplenomegaly , mild jaundice ; older patients may appear similar to severe β thalassemia special face . Combined with respiratory infection or taking oxidizing drugs, antimalarial drugs can induce acute hemolytic anemia aggravated , or even hemolytic crisis .
Laboratory tests : blood and bone marrow changes similar heavy β thalassemia ; erythrocyte osmotic fragility reduction ; denatured globin -positive ; HbA2 and HbF levels to normal. Birth, blood contains about 0. 25Hb Bart's and small HbH; age , HbH gradually replaced Hb Bart's, the amount of from about 0.024 to 0.44 . Inclusion generate test positive.
4 . Heavy known as Hb Bart's hydrops syndrome. Fetus usually within 30 to 40 weeks of miscarriage, stillbirth or death within half an hour after delivery , the fetus showed severe anemia , jaundice , edema , hepatosplenomegaly , ascites, pleural effusion. Placenta huge and brittle.
Laboratory tests : blood mature red blood cell morphological changes such as heavy- β thalassemia , nucleated red blood cells and reticulocytes increased significantly . Almost all hemoglobin Hb Bart's or simultaneously with a small amount of HbH, no HbA, HbA2 and HbF.


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