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Genetic Diseases

Chorionic Villus Sampling: Indications, Limitations, Procedure and Risks

By Dr Surbhi Mahajan

Chorionic Villus Sampling

Chorionic villus sampling (CVS) is a prenatal test carried out during pregnancy to detect any chromosomal or genetic abnormality in an unborn baby. In this procedure, a small sample of chorionic villus is removed from the mother’s body and tested for the presence of any abnormality in the baby. Chorionic villus is the tissue present […]

Filed Under: Genetic Diseases, Procedures

Genetic Inheritance-Modes and Significance

By Dr Surbhi Mahajan

Genetic inheritance is a basic principle of genetics. It explains how characteristics and traits are passed from one generation to the next. Every individual receives genetic material from both the parents. However, which gene will dominate to express itself or how the various genes interact with each other to express a certain trait or disorder […]

Filed Under: Genetic Diseases

Hemochromatosis: Causes, Symptoms and Treatment

By Dr Surbhi Mahajan

haemohaemochromatosis phlebotomy

Hemochromatosis is a condition characterized by the excessive storage of iron in the body. The condition is also known as iron overload. Primary hemochromatosis is a type of hemochromatosis when there is excessive absorption of iron due to a genetic defect. Secondary hemochromatosis occurs due to some other underlying disease. This excess iron is stored […]

Filed Under: Genetic Diseases

Wilson Disease – Symptoms, Diagnosis And Treatment

By Dr Surbhi Mahajan

The-Kayser-Fleischer-ring in Wilson Disease

Wilson disease is a rare inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. It is also called hepatolenticular degeneration syndrome or copper storage disease. Most people present with symptoms between 5 to 35 years of age, but it can affect younger and older people, […]

Filed Under: Genetic Diseases

Albinism – Causes and Types

By Dr Arun Pal Singh

Albinism is  of a group of inherited disorders characterized by a congenital reduction or absence of melanin pigment due to defective production of melanin from tyrosine. An estimated 1 in 17,000 people have one of the types of albinism. Oculocutaneous albinism is the most common type of albinism Both males and females can be affected. […]

Filed Under: Genetic Diseases

G6PD Deficiency-Classification, Investigations, and Treatment

By Dr Surbhi Mahajan

Defect in Glucose-6-phosphate dehydrogenase deficiency

Glucose 6 Phosphate dehydrogenase deficiency or G6PD deficiency is the most common metabolic disorder of red blood cells. It is a genetic disorder in which there is a deficiency of enzyme Glucose-6-phosphate dehydrogenase or G6PD in the blood. This enzyme plays a role in Hexose monophosphate pathway [a metabolic pathway involved in the formation of […]

Filed Under: Hematology, Genetic Diseases

Skeletal Dysplasia Causing Short Limbs

By Dr Arun Pal Singh

short limbs dysplasia

Short limbs may be due to many causes. Dysplasia is a term that is used to denote abnormality in maturation of cells within a tissue. That means that the tissue developed would have abnormalities. The skeletal development can be hampered by many causes and is classified according to the embryological segment affected. Following types of […]

Filed Under: Genetic Diseases

Metatropic Dwarfism

By Dr Arun Pal Singh

Metatropic Dwarfism

Metatropic dwarfism or metatropic dysplasia I is a rare genetic disorder characterized by extremely small stature, with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. Metatropic dwarfism manifests at birth with short […]

Filed Under: Genetic Diseases

Aarskog Syndrome – Symptoms and Treatment

By Dr Arun Pal Singh

aaskorg-syndrome

Aarskog syndrome is a rare genetic disorder manifested by retarded growth that occurs by three years of age, facial, musculoskeletal and genital anomalies, and mild intellectual disability. The disorder occurs in 1 in 1 million individuals in the general population. Some mild cases often go unrecognized. Causes of Aarskog Syndrome Aarskog syndrome is transmitted as […]

Filed Under: Blog, Genetic Diseases

Xeroderma Pigmentosum: Causes, Treatment and Prognosis

By Dr Arun Pal Singh

A girl with xeroderma pigmentosum

Xeroderma pigmentosum is a genetic disorder of extreme sensitivity to ultraviolet light and is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development. It is transmitted as an autosomal recessive character caused by defective repair of the damage to DNA induced by sunlight. The frequency is about 1 case per 250,000 population […]

Filed Under: Genetic Diseases

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Cerebro Spinal Fluid Analysis

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Nausea-Causes, Investigations, Home Remedies and Treatment

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Pure Red Cell Aplasia- Causes, Types, Investigations and Treatment

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7 Healthy Morning Habits Everyone Should Follow

A healthy morning routine enables one to lead a productive and … [Read More...] about 7 Healthy Morning Habits Everyone Should Follow

Chorionic Villus Sampling

Chorionic Villus Sampling: Indications, Limitations, Procedure and Risks

Chorionic villus sampling (CVS) is a prenatal test carried out during … [Read More...] about Chorionic Villus Sampling: Indications, Limitations, Procedure and Risks

Abnormal RBC Types and Shapes

Abnormal RBC types and shapes can be seen under a variety of … [Read More...] about Abnormal RBC Types and Shapes

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