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Thalassemia is blood disorder where individuals with thalassemia produce too muc

ID: 272064 • Letter: T

Question

Thalassemia is blood disorder where individuals with thalassemia produce too much iron. This disease is inherited as an autosomal recessive. It has been hypothesized that heterozygous individuals have some immunity to malaria (similar to sickle cell anaemia). You obtain blood samples from a Mediterranean population of humans where malaria is endemic and among 100 individuals find 3 with thalassemia and 50 who are carriers. Are these results consistent with the hypothesis that heterozygous individuals have partial immunity to malaria?

Explanation / Answer

The steps involved here,

Step : 1: Calculation of the allele frequencies:

Phenotype

Genotype

Freequency

Allele T

Allele t

Total

Normal

TT

47

94

0

94

Carriers

Tt

50

50

50

100

Thalassemia

tt

3

0

6

6

Total

Total

100

144

56

200

Allele T

= 144/200

= 0.72

Allele t

= 56/200

= 0.28

Step: 2: Calculation of the expected genotype frequencies

Normal

TT

= 0.72*0.72= 0.518

*100= 52

Carriers

Tt

= 2*0.72*0.28= 0.403

*100= 40

Thalassemia

tt

= 0.28*0.28= 0.078

*100= 8

Step: 3: Comparison of observed and expected genotype frequencies statistically:

Null hypothesis: The observed values are not deviating from the expected values.

Test Static- Chisquar test:

Category

TT

Tt

tt

Observed values

47

50

3

Exprected Values

52

40

8

Deviation

-5

10

-5

D^2

23.4256

93.7024

23.4256

D^2/E

0.45

2.32

2.99

5.76

X^2

5.76

Degrees of freedom

1

Inference: As the calculated chi-square value i.e. 5.76 is greater than the table value i.e. 3.84 at 1DF and 0.05 probability, hence the null hypothesis is rejected. Which means ,these results are not consistent with the hypothesis that heterozygous individuals have partial immunity to malaria.

If there is any raw data of malaria immunity, then we need follow another approach, so, do verify your data and let me know.

Phenotype

Genotype

Freequency

Allele T

Allele t

Total

Normal

TT

47

94

0

94

Carriers

Tt

50

50

50

100

Thalassemia

tt

3

0

6

6

Total

Total

100

144

56

200

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