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

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Thalassemia and haemophilia are categorised as Mendelian disorders because these disorders are due to alteration in a single gene. Also they are transmitted to offsprings through Mendelian principles of inheritance.

Symptoms and pattern of inheritance are given below :

$(a)$ Thalassemia: It is an autosomal linked recessive blood disorder characterised by defects in $\alpha$, $\beta$ or $\delta$ chain resulting in abnormal Hb molecule.

Symptom : Anaemia

Inheritance : Two mutant alleles (one from each parent) must be inherited for an individual to be affected i.e. homozygous. Heterozygous are carriers and may pass the mutant allele to children.

$(b)$ Haemophilia : It is a sex linked recessive disorder whose gene is located on $X$-chromosome.

Symptom : Prolonged clotting time and external bleeding even in minor injury.

Inheritance : The gene is present on $X$-chromosome, so it is inherited by males as they have single $X$-chromosome. Affected males are said to be hemizygous. Females have two $X$chromosomes, thus possibility of them being affected is rare as the mother of such female has to be atleast carrier and father should be haemophilic.

Similar Questions

Given below is pedigree chart showing the inheritance of a certain trait in human. Select the correct option for the given chart

The most important example of point mutation is found in a disease called

Choose correct option.

$(i)$ The heterozygous female transmit the disease to son.

$(ii)$ Change in the shape of the $RBC$ from biconcave disc to elongated sickle like structure.

$(iii)$ Mentally retarded.

$(iv)$ Heamoglobin not formed proper amount in blood.

Describe pedigree analysis and draw its symbols.
 

Mr. Stevan is suffering from haemophilia and cystic fibrosis. His father is hetrozygous for cystic fibrosis. The probability of Stevan's sperm having recessive $X-$linked as well as autosomal allele is