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Homozygous β-thalassemia diseas - Coggle Diagram
Homozygous β-thalassemia diseas
Pathogenesis
β-gene mutation
β globin ↓
Excess α globin
Inclusion body in RBD precursors
inneffective erythropoiesis
increased RBC destruction
bizarre morphology
increased bilirubin
Jaundice
Gallstone
Anemia
increased iron absorption
blood transfusion
iron overload
Payenchymal
massive erythopoiesis
Follate deficiency
Erythopophyrin ↑
Massive expansion of bone marrow
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Mutations that result in β-thalassemia
Gene deletion
Prematuretermination
Frameshift mutation
Splicejunctionmutation
:
Results
Hemoglobin analysis (CZE):
After blood transfusion
Hb type : A2F
Interpretation : Homozygous β-thalassemia
DNA analysis: globin gene mutations
Multiplex- gap PCR:Negative
for α-thalassemia 1 and α-thalassemia2
Red blood cell morphology
PCR-RDB
[HBB codons 41/42, -TCTT mutation]
CBC and Screening Test Results
Medical history
A 18-year-old female
jaundice ,leg ulcers ,gallstones ,hepatosplenomegaly
splenectomy has been operated for two years ago
blood transfusion every month
LABORATORY DIAGNOSIS OF THALASSEMIA
Screening Tests
OF : positive DCIP : negative MCV MCH : positive
( MCV < 80 fL and / or MCH < 27 pg : + ( positive) )
Hb Typing
HPLC / LPLC , CZE : A2F , EF , A2FA , EFA
DNA analysis
• PCR FOR alpha-thalassemia : negative
• PCR FOR beta-thalassemia mutation : HBB codon 41/42 , -TCTT mutation
Guidelines for prevention and treatment
Prevention
Should be screened for carriers in different groups of people.
All couples who are getting married or planning to have children Consult your doctor
Advice should be given to carriers who are at risk of having a child with severe thalassemia.
Treatment
Giving blood to the patient to bring the hemoglobin level close to normal
bone marrow transplantation
Signs and symtoms
Gallstones ( cholelithiasis )
Leg ulcers
Jaundices
Abnormal enlargement of the liver and spleen (hepatosplenomegaly)