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beta thalassemia
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Beta thalassemia is a genetic disorder caused by point mutations in the beta-globin gene on chromosome 11 on hemoglobin , which is the oxygen-carrying protein in erythrocytes. This abnormal hemoglobin can lead to anemia.
+INFO
SYMPTOM S
Autosomal rececive Diseas
Two mutated copies of this gene, one from each parent, are needed to develop the disease
1. Severe Anemia 2. Growth retardation 3. Hepatosplenomegaly and lymphadenopathy 4. facial changes "squirrel face". 5. Increased risk of fracture 6. Widening of the medullary cavity and bone thinning (spiky hair sign) 7. Patient prone to infections 8. Increased risk of thrombosis
Blood smearS
Pathogenesis
1. Basophil stitch 2. Dianocytes or condocytes 3. Jolly Howell Bodies
Labs
1. Severe Anemia 2. Low MCV 3. Low MCH 4. Hypochromic and microlitic erythrocytes 5. Hypercellularity, erythroid hyperplasia
Electrophoresis
Integer sed mattis libero, commodo efficitur sem.
Beta thalassemia Inermedia
The person has two mutated genes that code for reduced beta globin chain synthesis
Moderately severe anemia that usually requires usually requires regular blood transfusions
Beta thalassemia minor
If the person has just one mutated gene that codes for either reduced production or absent production8 of beta-globin chains.
Mild anemia usually does not require medical treatment.
Beta thalassemia Inermedia
The person has two β0 mutations then no beta globin chains are produced
Potentially fatal anemia
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Transcript
lorem ipsum dolor amet
beta thalassemia
ESCRIBE TU TÍTULO AQUÍ
Beta thalassemia is a genetic disorder caused by point mutations in the beta-globin gene on chromosome 11 on hemoglobin , which is the oxygen-carrying protein in erythrocytes. This abnormal hemoglobin can lead to anemia.
+INFO
SYMPTOM S
Autosomal rececive Diseas
Two mutated copies of this gene, one from each parent, are needed to develop the disease
1. Severe Anemia 2. Growth retardation 3. Hepatosplenomegaly and lymphadenopathy 4. facial changes "squirrel face". 5. Increased risk of fracture 6. Widening of the medullary cavity and bone thinning (spiky hair sign) 7. Patient prone to infections 8. Increased risk of thrombosis
Blood smearS
Pathogenesis
1. Basophil stitch 2. Dianocytes or condocytes 3. Jolly Howell Bodies
Labs
1. Severe Anemia 2. Low MCV 3. Low MCH 4. Hypochromic and microlitic erythrocytes 5. Hypercellularity, erythroid hyperplasia
Electrophoresis
Integer sed mattis libero, commodo efficitur sem.
Beta thalassemia Inermedia
The person has two mutated genes that code for reduced beta globin chain synthesis
Moderately severe anemia that usually requires usually requires regular blood transfusions
Beta thalassemia minor
If the person has just one mutated gene that codes for either reduced production or absent production8 of beta-globin chains.
Mild anemia usually does not require medical treatment.
Beta thalassemia Inermedia
The person has two β0 mutations then no beta globin chains are produced
Potentially fatal anemia