(a) Why are thalassemia and haemophilia categorized as Mendelian

Subject

Biology

Class

CBSE Class 12

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28.

(a) Why are thalassemia and haemophilia categorized as Mendelian disorders ? Write the symptoms of these diseases. Explain their pattern of inheritance in humans.

(b) Write the genotypes of the normal parents producing a haemophilic son.


(a) Thalassaemia and haemophilia are categorised as Mendelian disorders because they occur by mutation in a single gene. Their mode of inheritance follows the principles of Mendelian genetics. Mendelian disorders can be

  • autosomal dominant (muscular dystrophy)
  • autosomal recessive (thalassaemia)
  • sex linked (haemophilia)

Symptoms of Thalassaemia

  • Thalassaemia minor results only in mild anaemia, characterised by low haemoglobin level.
  • Thalassaemia major is also known as Cooley's anaemia. In this disease, affected infants are normal but as they reach 6 to 9 months of age, they develop severe anaemia, skeletal deformities, jaundice, fatigue, etc.


Symptoms of Haemophilia

  • Person suffering from this disease does not develop a proper blood clotting mechanism.
  • A haemophilic patient suffers from non-stop bleeding even on a simple cut, which may lead to death.

Pattern of Inheritance of Thalassaemia
Pair of alleles HbA and HbT controls the expression of this disease.
Conditions for thalassemia:

  • HbA and HbA: Normal
  • HbA and HbT: Carrier
HbT and HbT: Diseased

Let us assume that both father and mother are the carriers (HbA HbT) of beta thalassaemia.

Parents

 

HbAHbT  
(Father)

x

HbAHbT
(Mother)

Offsprings

HbAHbA
Normal child

HbAHb
Carrier child
with thalassaemia trait

HbAHbT 
Carrier child
with thalassaemia trait

HbTHbT
Child with 
severe thalassaemia


Pattern of Inheritance of Haemophilia:
Haemophilia is an X-linked genetic disorder. Compared to females, males have higher chances of getting affected because females have XX chromosomes while males have only one X with Y chromosome. Thus, for a female to get affected by haemophilia, she has to have the mutant gene on both the X chromosomes while males can be affected if they carry it on the single X chromosome.
Conditions for haemophilia:
XY; XX: Normal
XhY: Haemophilic
XhX: Carrier
XhXh: Haemophilic
Let us assume that a carrier female (XhX) is married to a normal male.


Parents

 

XY  
(Male)

x

XhX
(Female)

Offspring

XhX
Carrier
female

XX
Normal
female


XhY
Haemophilic
male
 

XY
Normal
male


Parents

 

XY  
(Male)

x

XhX
(Female)

Offspring

XhX
Carrier
female

XX
Normal
female


XhY
Haemophilic
male
 

XY
Normal
male



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