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THALASSEMIA MAJOR MINOR & OTHER SUBTYPES,[object Object],SOUMADITYA BANERJEE, 5THSEMESTER STUDENT       ,[object Object],Moderator: Dr Santosh Kumar Mondal,[object Object],Assoc.Professor, Pathology ,[object Object]
Thalassemia major minor & other subtypes Soumaditya
CASE STUDY:,[object Object],A  four years old male child suffering from growth retardation, irritability ,anorexia till infancy.,[object Object],O/E :1. pallor marked, huge enlargement of liver & spleen,[object Object],         2.no marked lymphadenopathy, ,[object Object],         3. depressed nasal bridge,[object Object]
Thalassemia major minor & other subtypes Soumaditya
Classification of beta thalassemia:,[object Object]
BETA THALASSEMIA MAJOR:,[object Object],Highest incidence in south east asia , Mediterranean countries & parts of africa..,[object Object],types of genetic mutations seen:,[object Object]
Clinical features:,[object Object],       family history,[object Object],       anemia  appear during 6-8 months of age,[object Object],       mild icterus,[object Object],       history of repeated blood transfusion,[object Object],hepatosplenomegaly,[object Object],       dilatation of heart with  feature of  heart failure,[object Object],       facial & other bony anomalies.,[object Object]
Family  history!!,[object Object]
CLINICAL FINDINGS AT DIAGNOSIS:,[object Object],Clinical manifestation emerge during second sixth month of life.,[object Object],Diagnosis always evident by 2nd yr.,[object Object],Pallor , irritability , abdominal swelling ,jaundice are usual symptoms.,[object Object],.,[object Object]
Thalassemicfacies:,[object Object]
Radiograph shows: ,[object Object]
Additional skeletal changes are observed in the metacarpals, metatarsals, and phalanges, where expanded medullary cavities produce a rectangular and then a convex shape . ,[object Object],Irregular fusion of the epiphyses of the proximal humerus results in characteristic shortening of the upper arms.,[object Object]
Hypercoaguable state:,[object Object],A chronic hypercoagulable state has been observed even in childhood . It has been demonstrated that procoagulant phospholipids are exposed on the surface of the red cells and that platelets and the hemostatic system are activated in thalassemia major.,[object Object], In addition, vascular endothelial cell injury and the peroxidative status due to iron overload have been proposed as possible  mechanism.,[object Object]
Hepatospleenomegaly:,[object Object],Causes:,[object Object],           1.prior to transfusion d/t extramedullary hematopoeisis .,[object Object],           2. with transfusion iron overload  add a new reason to this.,[object Object],           3.this also increase chance of hepatocellular carcinoma.,[object Object]
Heart:,[object Object],Cardiac abnormalities are important causes of morbidity and mortality .,[object Object], Cardiac enlargement secondary to anemia is almost always present.,[object Object],myocardial hemosiderosis and serious iron-induced cardiac diseases were inevitable .,[object Object]
Lungs:,[object Object],Patients exhibit primarily restrictive defects; others experience mild to moderate small-airway obstruction and hyperinflation.,[object Object], Most patients have a decreased maximal oxygen uptake and anaerobic threshold; these do not normalize after transfusion.,[object Object]
Beta thalassemia minor:,[object Object],CLINICAL FEATURES:,[object Object],         Asymptomatic,[object Object],         spleen may be palpable,[object Object],         mostly detected in adults as a case of                    chronic anaemia,[object Object]
:important feature:,[object Object],This  occurs mainly in endemic areas of malaria.,[object Object]
Thalassemiaintermedia:,[object Object],Clinical features: ,[object Object],       symptomatic with moderate anemia,[object Object],       may have splenomegaly, bone deformity,[object Object],        recurrent leg ulcers ,gall stones ,infections,[object Object],pt. may be iron overloaded.,[object Object]
Alpha thalassemia:,[object Object]
Clinical manifestations:,[object Object]
Silent carrier:,[object Object],α+-Thalassemia trait has no consistent hematologic manifestations. ,[object Object],The red blood cells are not microcytic, and Hb A2 and Hb F are normal. ,[object Object],During the newborn period, small amounts (≤3%) of Hb Bart (γ4) can be seen by electrophoresis or other techniques. ,[object Object],This condition is most often recognized when an apparently normal individual becomes the parent of a child with Hb H disease after mating with a person with α°-thalassemia trait. ,[object Object]
α-Thalassemia Trait (α°-Thalassemia Trait),[object Object],Levels of Hb A2 in the low to low normal range (1.5%–2.5%) ,[object Object],β/α synthetic ratios averaging 1.4 : 1 characterize α°-thalassemia trait. ,[object Object],During the perinatal period, elevated amounts of Hb Bart are noted (3%–8%). ,[object Object],Microcytosis is present in cord blood erythrocytes.,[object Object]
HbH disease:,[object Object],HbH disease is common in Southeast Asia and relatively frequent in Mediterranean countries and parts of the Middle East,  ,[object Object]
Subjects with HbH disease may develop complications including hypersplenism, leg ulcers, and gallstones.,[object Object],Hypersplenism has been reported in 10% of Thai patients with HbH disease, but seems to be rare elsewhere .,[object Object], Iron overload is not common and has been reported only in some older patients and as a result of repeated blood transfusions,[object Object]
Hydropsfetalis:,[object Object],Hb Bart hydropsfetalis syndrome is the most severe α-thalassemia clinical condition, often associated with the absent function of all four α-globin genes,[object Object],A fetus homozygous for α0-thalassemia produces mainly Hb Bart (γ4), which is functionally useless for oxygen transport, and his or her survival to late pregnancy is due to the presence of small amounts of embryonic hemoglobins Portland 1 (ζ2γ2) and Portland 2 (ζ2β2,[object Object]
severe anemia (Hb level range, 3 to 8 g/dl) marked ,[object Object],hepatosplenomegaly, ,[object Object],generalized edema, ,[object Object],signs of cardiac failure,,[object Object],extensive extramedullary erythropoiesis in many organs . ,[object Object],Other congenital abnormalities: particularly of the skeletal, cardiovascular, and urogenital  system,[object Object]
Complication during pregnanacy:,[object Object],Complications during pregnancy are common,[object Object],mild pre-eclampsia (hypertension, fluid retention with or without proteinuria), ,[object Object],polyhydramnios or oligohydramnios,[object Object],antepartum hemorrhage.,[object Object], Postpartum complications include :placenta retention, eclampsia (fits and coma), hemorrhage, anemia, and sepsis. ,[object Object]
Ththank you,[object Object]

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