Anaemia Flashcards
1
Q
What is thalasemia anaemia
A
Inherited blood disorder in which the body makes an abnormal form of memoglobin
2
Q
What are the causes of thalassemia
A
- Inherited
- Mutation
3
Q
Types of Thalassemias
A
- Alpha thalassemia
- Beta thalassemia
4
Q
Characteristics of alpha thalassemia
A
- Alpha globin chains are coded on chromosome 16
- Each individual inherits 4 alpha genes, 2 maternal and 2 partenal
5
Q
What causes alpha thalassemia anaemia
A
Deletion of 1 or more of the 4 alpha globin genes
6
Q
Characteristics of Beta thalassemia
A
- Beta globins chains are coded on chromosome 11
- Individuals inherit two beta genes, one martenal and one partenal
7
Q
How is beta thalassemias occur
A
- By the inheritance of defective beta gene, from 1 or more parents
8
Q
Two divisions of beta thalassemias
A
- Beta major
- Bet minor
9
Q
How is thalassemia anaemia diagnosed
A
- Prenatal testing. Tests that are done before baby is born to find out if it has thalassemia
- Chorionic villus sampling. Tiny piece of placenta is removed for evaluation
- Aminiocentesis
10
Q
Laboratory findings
A
MCV are much lower
RDW is more severe
Microcytosis
11
Q
Treatment and managing thalassemias
A
Stem cell transplant
Frequent blood transfusion
12
Q
Clinical features
A
Enlarged spleen
Skeletal deformity
Fatigue
Abnormal swelling