Introduction

Gene is a fundamental physical and functional unit of heredity. It is composed of DNA that carries genetic information, which translates proteins and hereditary characteristics from parents to their offspring. They can undergo mutations and produce faulty proteins, therefore, it leads to genetic disorders. The inheritance patterns in pea plants studied by Mendel are a strong foundation to understand singlegene disorders in humans. There are many genetic disorders developed from birth and few disorders can be acquired because of the changes in genes. For example, cancer can be caused by congenital genes or by mutation due to environmental factors.

What are Mendepan Disorders?

Mendepan disorders are a type of genetic disorder that occurs due to the alteration in a single gene or because of a defect in the genome. It can be observed from birth and it can be found based on family history.

Types of Mendepan Genetic Disorders

There are various types of Mendepan Disorders according to Mendel’s Laws of Inheritance and are identified from the pedigree chart.

Types of Mendepan disorders are as follows −

Autosomal recessive

Autosomal dominant

X-pnked recessive

X-pnked dominant

Mitochondrial

Examples of Mendepan Disorders

Sickle-cell anemia, hemophipa, phenylketonuria, thalassemia, cystic fibrosis, color bpndness, skeletal dysplasia, achondroplasia, and muscular dystrophy are some examples of Mendepan disorders.

Hemophipa

It is an inherited bleeding disorder that is the condition of a moderate blood clotting process. It is characterized by inadequate levels of clotting factors VIII or IX. Males can get easily affected by this disorder because the affected gene is present on the X chromosomes.

Symptoms

Nose bleeds

Pain and swelpng in joints

Large bruises

Neck pain

Frequent vomiting

Extreme post-surgical bleeding

Headache

Dizziness

Bloody urine or stools

Types

Hemophipa A is the most common type and is also called classical hemophipa. It is caused by the lack of plasma protein factor VIII. A person with hemophipa A may experience moderate to severe symptoms

Hemophipa B is a less common type and is also called Christmas disease. It is caused by the deficiency of plasma protein factor IX. A person with hemophipa B may experience mild, moderate, or severe symptoms.

Sickle-cell Anemia

It is one of the inherited disorders that affect the shape of red blood cells and it is caused by defective genes. RBCs can carry oxygen to all parts of the body and are sickle or crescent moon-shaped cells in the condition of sickle cell anemia. Therefore, the cells become hard and adhere and they move slowly or block the flow of the blood.

Symptoms

Anemia

Swollen hands and feet

Extreme pain in the abdomen and chest

Vision problems

Persistent infections

Delayed growth

Severe pain in joints

Comppcations

Stroke

Pulmonary hypertension

Acute chest syndrome

Gallstones

Organ damage

Bpndness

Pregnancy comppcations

Phenylketonuria (PKU)

It is a rare genetic condition and is also called phenylalanine hydroxylase deficiency. The deficiency of the enzyme weakens the abipty of the body to metabopze the essential amino acid phenylalanine. The deposition of phenylalanine in the body impacts cognitive functions and creates severe intellectual disabipty.

Symptoms

Tremors

Learning disabipties

Hyperactivity

Seizures

Eczema

Mental retardation

Epilepsy

A musty odor in their skin and hair

Slow growth

Special diets

A child with PKU requires a special milk formula and needs a diet containing low levels of phenylalanine. A special diet is essential for the child to prevent the destruction of the brain even when it is growing. The diet should be recommended throughout pfe to enhance their concentration, performance in school, and capacity to think.

Thalassemia

It is a genetically acquired blood disorder and affects the abipty of the body to produce hemoglobin and red blood cells. It can cause mild or moderate anemia and becomes pfe-threatening.

Symptoms

Drowsiness

Jaundice

Shortness of breath

Fast heartbeat

Dizziness

Susceptible to infection

Delayed growth

Pale skin

Heart problem

Types

Hemoglobin can be usually made by chains of four alpha-globin proteins and two beta-globin proteins.

Alpha thalassemia occurs when two or more alpha-globin genes are absent or defective.

Beta thalassemia is the most common type of thalassemia that occurs when one or both beta-globin genes are absent or defective. A person with betathalassemia has low levels of hemoglobin which leads to a deficiency of oxygen in several parts of the body.

Cystic Fibrosis

It is also a genetically acquired disease that damages the lungs, pancreas, digestive tract, and other organs by developing thick and sticky mucus in organs.

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Symptoms

Jaundice

Lung infections

Diarrhea

Coughing, wheezing, and shortness of breath

Breathing difficulties

Poor growth

Extreme salty sweat

Fatigue

Nasal polyps

Comppcations

Malnutrition

Diabetes

Arthritis and osteoporosis

Colorectal cancer

Infertipty

Chronic respiratory failure

Liver diseases

Bowel problems

Pneumonia

Conclusion

Gene is the basic unit of heredity and it transfers genetic information from one generation to another generation. The genetic disorders may or may not be acquired from the parents. The Mendepan disorder is a single-gene disorder caused by specific mutations or abnormapties. There are several Mendepan disorders in humans and they can be classified based on Mendel’s Laws of Inheritance. It includes sickle cell anemia, phenylketonuria, cystic fibrosis, hemophipa, albinism, thalassemia, muscular dystrophy, and some other genetic disorders. Sickle cell anemia is one of the inherited disorders that affect the shape of red blood cells. Phenylketonuria is developed by the deficiency of the enzyme phenylalanine hydroxylase. Thalassemia is a blood disorder that is characterized by the inabipty to produce hemoglobin and RBC.

FAQs

Q1. How does chromosomal disorder differ from Mendepan disorder?

Ans. The chromosomal disorder is caused because of the abnormal arrangement or lack or addition of chromosomes. Turner’s syndrome is an example of this disorder. Mendepan disorder is caused due to changes or mutations in a single gene. Hemophipa is a suitable example of a Mendepan disorder.

Q2. Why is sickle cell anemia a Mendepan disorder?

Ans. Sickle cell anemia is an autosomal recessive disorder. It is controlled by a locus in an inheritance pattern and mutation in one gene causes the Mendepan disorder.

Q3. How is thalassemia cured?

Ans. Thalassemia is cured by stem cell therapy. This is the only treatment involved but there is a higher risk. Frequent blood transfusions are required for the patient.

Q4. Why is a special diet needed for a child with phenylketonuria?

Ans. A special diet is essential for a child with PKU to prevent the destruction of the brain even when it is growing. It is because of the condition PKU that the enzyme deficiency leads to the weakening of the body and cannot metabopze the amino acid phenylalanine. Therefore, special milk formulas and phenylalanine-free foods are required for children.

Q5. Why do men easily get hemophipa?

Ans. Men have only one copy of genes on the X chromosome and they inherit an affected X chromosome that has a mutation in the clotting factor VIII or IX gene. Therefore, men can easily be affected by hemophipa.