a literature review about "Genetic factor of Iron overload disease"

A LITERATURE REVIEW ABOUT "GENETIC FACTOR OF IRON OVERLOAD DISEASE"
Table of Contents
Introduction    3
Genetic Mutation Affecting Iron Overload Diseases    3
Classic Heredity Hemochromatosis     3
Juvenile Hemochromatosis……………………………………………………………….4-5
Ferroportin Disease………………………………………………………………………...5
Atransferrinemia…………………………………………………………………………5-6
DMT1 Deficiency……………………………………………………………………………6
Aceruloplasminemia……………………………………………………………………….6-7
IRIDA………………………………………………………………………………………7
Recent Research works with its Implications………………………………………………..7-9
Similarities and Dissimilarities……………………………………………………………….9
Considering part………………………………………………………………………………..9
Recommendation………………………………………………………………………………10
Conclusion    10
References……………………………………………………………………………………….11
Introduction
Iron over load diseases is certain medical situation where our body preserve the excess irons. There are many genetic and secondary causes. Genetic causes consist of hereditary hemochromatosis a genetic condition where an individual’s body absorbs excessive iron from food as well as drinks. Secondary causes include blood transfusion, excess iron intake and certain blood disorders. Our body cannot discharge excess iron thereby it stores in certain organs such as liver, heart, pancreas and other lymph reticular systems and glands.
Without treatment, excessive induction of iron can also turn our skin colour into bronze colour. There are several Iron related Disorders such as primary condition including genetic components and secondary hemochromatosis, which seems to be developed for other issues. The role of excess iron in increasingly evaluated and are important pathophysiological for new therapy. In this study, the aim is to discuss about genetic factors and mutation, which causes Iron over load diseases.
Genetic Mutation Affecting Iron Overload Diseases
There are various types of genetic factors affecting disease with systemic iron overload such as—
Classic Heredity Hemochromatosis
Classic Heredity Hemochromatosis is defined as a rare genetic disorder, which is featured by the accumulation of iron in several vital organs such as heart, pancreas and liver. In Classic Heredity Hemochromatosis, affected people’s symptoms are not obvious until around 40-60 years of age (1). Men are usually symptomatic when compared to women. The commonest symptoms of classic hereditary hemochromatosis include joint inflammation and pain (arthritis) especially in the small joints including fingers, lethargy, unexplained weight loss, pain in abdomen and hepatomegaly. Classic hereditary hemochromatosis is caused by mutations of the HFE gene situated on CHROMOSOME 6, which is assumed an autosomal recessive pattern. Genetic diseases are identified by the combination of genes for a specific trait that are on the chromosomes inherited from the parents. It has three variation
a) His63Asp H63D (10%),
b) Cys282Tyr C282Y (3%) and
c) Ser65Cys S65C (1%)
There is a transition point mutation of C282Y allele resulting in adenine from guanine at nucleotide 845. This causes a missense mutation producing tyrosine instead of cysteine at position 282. The chance for affection increases if either of the parents is affected (2). The probability each gender remains the same. It is most commonly found in the Caucasian population with Northern European incidence is found to be 1 in 227 people and 10% of them are carriers.
Therapy includes routine blood loss by phlebotomy, which decreases excess body iron storage, which is the simple and safe procedure. Drug therapy includes deferoxamine.
Juvenile Hemochromatosis
Juvenile Hemochromatosis it is also known as hereditary hemochromatosis type 2, Juvenile hereditary hemochromatosis, or type 2 hereditary hemochromatosis. It is a rare disorder with iron deposition in various organs. It includes hypertrophic, hypogonadism, cirrhosis; diabetes and skin hyperpigmentation. It has two types—
a) Juvenile hemochromatosis type 2A mutation of HJV gene
b) Juvenile hemochromatosis type 2B mutation of HAMP gene
There is mutation in two genes HJV, HEMOJUVELIN (90%) and HAMP, HEPCIDIN ANTIMICROBIAL PEPTIDE (10%) these are mostly autosomal recessive and are transmitted from affected parents. The HJV gene is situated on chromosome one (long arm, 1q21) and HAMP gene at chromosome 19 (long arm 19q13). The HJV gene and HAMP gene are essential for iron absorption and transport. Mutation of HJV and HAMP gene leads to decreased level of active HEMOJUVELINE and HEPCIDIN (4).
It is mainly diagnosed clinically and there is increased serum iron, serum ferritin and transferrin saturation. Therapy includes phlebotomy and iron...