Hereditary Diseases and their Preventions
Dr. ASK. Felix
MBBS (Sam), DPH (Cal)
De-Ad Trg. AIIMS Delhi
MIPHA (Cal),
Patron Member AICU (Delhi)
Sr. Specialist (PH), Ukhrul
Definition:
Hereditary Diseases are the inherited abnormal congenital diseases/ defects caused by gene defects from the parents, fore fathers, grandfathers, grandmothers etc. Over 2300 hereditary diseases have been diagnosed/ identified.
Genes and their Functions:
Genes are units which are composed of DNAs, RNAs and chromosomes etc. These are the units of heredity which determine a particular character of an individual and transmit hereditary information from generation to generation with hereditary character and the variation of inherited character. They contain the hereditary information’s encoded in their chemical structure for transmission from generation to generation. The question of intelligence, low structure, high structure, low frame and big frame body, colour of blue eyes, black eyes, brown skin, fair skin, black skin, grey hair, white hair, brown hair, red-green colour blindness (due to human x-chromosome) etc are based on different genes and blood grouping ABO and Rh is based on Gene O, Gene A and Gene B. There are 14 Blood groups discovered till date.
Intelligence Quotient (IQ) and Grades:
The degree of intelligence and grades is assessed for the mental ability, capacity for the same age by the score of IQ and grades. There are 9 IQ levels starting from Idiot- 0-24%, Imbecile- 25-49%, Moron- 50-69%, Boderline- 70-79%, Low Normal- 80-89%, Normal-90-109%, Superior-110-119%, Very Superior-120-139%, Near Genius-140% and above. IQ can be improved with special education and favorable environmental factors.
The Essay on Is Alcoholism a Hereditary Disease?
Imagine yourself being 11 years old. You and your next-door neighbor just finished eating dinner, and now playing cards in front of the television. A few hours pass and your mother tells you that its bedtime. After being asleep for a couple of hours, you hear your father come inside your house. This was not unusual; he always comes home late at night. You hear your parents yell at each other and ...
The grading under Indira Gandhi National Open University (IGNOU), the grades are as follows: A is excellent with 80% and above, B is Very Good with 60-79.9%, C is Good with 50-59.9%, D is satisfactory with 40-49.9% and E is unsatisfactory with below 40%. JNU Delhi, many Universities and education institutions of various disciplines/ branches, departments, etc use grading systems for the students, research scholars and others. Often we use the comparative words such as intelligence, more intelligence, most intelligent or less intelligent, intelligent, very intelligent, extremely/ very highly intelligent, extra ordinarily intelligent. So as to score high IQ there was proposed attempt to use donor Nobel Laureate’s sperms for fertilization with ova of highly intelligent educated women. However it was not wholly, fully accepted on social, religious and medical ethics.
It is said that we inherit about 50,000 genes from the father and 50,000 genes from the mother. Gene occurs in pairs and if the pairs are alike (AA) then the individual is described as homozygous for the gene and if they are of different pairs (Aa) then the individual is described as heterozygous. The genetic sex of XX chromosome determines female and XY chromosome determines male. They affect development and function both in the normal and abnormal individuals.
According to many authors, genetically coordinated, related disease or diseases account for 25-40% of all cases treated by health services.
Genetics :
Genetics are the studies of genes of Hereditary and variation of inherited character. As genes affect development and functions in both normal and abnormal individuals, the study of genetics with different branches such as immuno-genetics, population genetics, cytogenetics, microbial genetics, clinical genetics, pharmaco genetics, biochemical genetics etc. play a pivotal role in the milestones of human development and the medical and social preventive measures and medical ethics. Plants genetics in high breed and animal genetics in high breed and cross breed clonning are also of special interests for the animal scientist, vetinararians and plants scientist.
The Term Paper on Density Lipoprotein Blood Cholesterol High
A 45 year old man who is a vegetarian (ovo-lacto), does not smoke or consume alcohol presents with the following blood work up. Blood pressure is typically 138/90. Asses his risk of coronary heart disease and describe changes associated with progressive atherosclerosis. Describe the disease process and pathological changes in his arteries. What lifestyle changes would you recommend? The blood work ...
Genetics Diseases:
1. Diabetes Mellitus: It is due to high blood sugar level (80-120mg%-normal) and is caused by auto-immune destruction of insulin producing beta cells in the pancreas resulting in absolute insulin deficiency whereas Diabetes Mellitus Type 2 is due to the resistance of insulin and inability to produce sufficient insulin to overcome insulin resistance. About one-third of the Diabetes Type 1 is due to genetic pre-disposition. In first degree of the relative of patients, if father is diabetic the risk is 9%, mother is diabetic 3%, both father and mother-30%, identical twins-35%, non-identical twins-20%, HAL-identical sibling-16% non HAL identical sibling-3%. Clinical features-complaints-tiredness, fatigue, itching over the body including (Private parts, pruritus vulvae, balanitis,) weight loss, diminished vision sometimes with lost vision (retinopathy), Nephropathy affecting kidney, Neuropathy (feet).
2. Hypertension: Hypertension is High Blood Pressure. It is a chronic condition due to causation of coronary heart diseases, stroke and other vascular complication involving liver, kidneys, lungs etc. Hypertension (HTN) is also associated with family backgrounds of hereditary diseases of the hypertensive families. The number of people with hypertension rose from 600 million in 1980 to 1000 million in 2008/
Blood pressure: blood pressure is the lateral pressure excreted by blood on the vessel walls while flowing through it. The blood pressure has variation depending of the ages. Three terms are used for recording blood pressure, (i) Systolic pressure (ii) Diastolic pressure (iii) Pulse pressure. The average systolic pressure is 110-145mmHg (Mercury) and average diastolic is 70-90mmHg. The difference between these two pressures that is systolic pressure – diastolic pressure is called pulse pressure and this pressure of 40 is the desirable number/level. However in general 140/90 is taken as normal and the systolic pressure below 100mmHg and diastolic pressure below 50mmHg is taken as low in adults. Accourding to WHO International Society of Hypertension systolic BP high normal is 130-139mmHg, and diastolic BP high normal 85-89mmHg.
The Essay on Crohns Disease Crohn Patients Symptoms
Crohn's Disease Crohn's disease is a bowel disease characterized by inflammation of the different layers of the gastrointestinal tract. It can be distinguished from ulcerative colitis (a similar disease) in that Crohn's affects any part of the gut, whereas ulcerative colitis only affects the innermost layer of the colon and rectum. About 15% of Crohn's patients have severe fistula ting disease. In ...
3. Asthma : Asthma is a chronic inflammatory disorder disease of respiratory tract/ airways with chest tightness, difficult breathing, and chough with wheezing noise. It is also related with hereditary background. In majority of the cases it is, related to allergen like house dust, mites, cockroaches, pets such as cats, dogs, pests such as fungi etc. Hay fever is common during erection of panicles (ma kashok) –panicle initiation stage, heading stage and flowering stage. Estimated 300 million worldwide suffer from this disease.
4. Epilepsy : It is the disease of seizures with unconsciousness, froth from the mouth, biting tongue, blue coloularation of the lips etc. The prevalence of active epilepsy in European countries is about 0.5% (1per 200).
The figure in developing countries may be higher because of parasitic illness, such as cysticercosis. It has family relation as confirmed by family history and genetic testing.
5. Sickle Cell Anaemia : It is a hereditary blood disease. Patients suffer from liver enlargement with yellow colouration, etc.
6. Haemophilia : It is also a blood disorder disease. Females are carriers but seldom occasionally females suffer from this disease. Patients have weakness, difficulty in breathing, bleeding from the mouth, gum, tongue, nose (epistasis), skin, muscle (haematoma), joints, brain, spinal cord, and other various orifices/ varices of the body-ear, eyes, anus, female private parts etc.
7. Thalassemia : It is also a blood disorder disease with liver enlargement with jaundice (yellow colouration of skin).
Still birth in some cases in case of alpha-thalassemia –Hb Barts’ hydrops is observed.
8. Systemic Lupus Erythromatus: It is a rare disease with 0.03% in Caucasians to 0.02% in Afro-Caribbeans. Some 90% affected are females and the peak age is 20-30 years. It shows butterfly facial (malar) rash over face and cheek and with scarring alopecia in scalp. The patient complaints of arthralgia in 90%, fever with weight loss etc. Reynaud’s Syndrome disease is common in SLE with skin rash over face, cheek. The disease affects kidney, lung, cardiovascular (heart and blood vessels), nerve producing neuralgia, gastro-intestinal problems.
The Research paper on Bladder Problem Disease Treatments Patients
Multiple Sclerosis Multiple Sclerosis is a disease that bewilders us all... The reason why I chose this diseases was because my mother has been diagnosed for two years already. She's slowly but surely recovering but they still haven't found the right medicine to get herself back on her feet. Scientist today still have no known cause for it yet. They do know that MS (multiple sclerosis) is a ...
9. Multiple Sclerosis : Familiar recurrence is 15% with highest risk in the 1st degree relatives. Monozygotic twins have 30% rate. The patients suffer from hardening of tissue, blood vessels, nerves etc. thereby the functions of such tissues are affected.
10. Nystagmus: It is also a hereditary disease encountered in few cases.
11. HIV AIDS : It is also a hereditary disease to a certain extent. It is caused by using infected syringes, instruments, infected blood, from sex contact, from parent to child transmission, and from breast feeding about 10%. The chance of infection from parent to child is about 30%. With Nevirapine therapy (Prevention of Parent to Child Transmission -PPTCT) to the pregnant woman, the rate has now decreased to 10%. According to UNAIDS 34.2 million people were suffering from HIV infection in 2011, 2.39million in India in 2008-09, 2.5 million in India in 2010 were suffering from this disease. HIV+ cases in Manipur is about 44000 2014, ART patients 11000-12000 (2014) and ART patients 1009 in Ukhrul district till 27 September 2014 according to Manipur State AIDS Control Society (MACS).
Patients Complaints (Clinical Features) :
Patients have weight loss, unexplained fever, unexplained diarrhoea, oral candidiasis, penicillios which is fungal infection. It is a definitive diagnosis of the disease. Patients have persistent fever, liver enlargement, lymph nodes enlargement. Besides these HIV-TB co-infection in 55% of the HIV patients suffer from Tuberculosis. There are several other clinical features, complaints depending on other opportunist infections.
Prevention, Treatment and Management :
1. Information, Education and Communication (IEC) is the best medicine for HIV/AIDS prevention.
2. HIV screening and counseling of the persons in the designated hospitals and health centers.
3. ART (Anti-Retroval Therapy) to the needy HIV+ persons.
The Term Paper on Gene They Therapy Genetic Disease
Human Gene Therapy "To much of the general public, genetic engineering is a vague notion of high tech manipulation of plants and animals. Its results too difficult to understand" (Cowen 18). It was not until this century that humans were granted a glimpse into the possible origins of biological inheritance. Scientists have only been aware of the existence of the hereditary factors, known as genes, ...
4. Rehabilitation (medical and social services).
In the late 1990s, with best available medical facilities the HIV/AIDS persons could survive hardly 3 years. With the improved medical (ART) and social services etc, they can now live for more than 20 years.
Preventive and Social Measures:
1. Health Promotional Measures:
(a) Eugenics: Galton proposed the term Eugenics for the science which aims to improve the genetic endowment of human population. Eugenics have both negative and positive espects.
(i) negative eugenics : Hitler sought to improve the German race by killing the weak and defective, this was negative eugenics. But nobody in the civilized world would approve of such a measure to improve the human race. On the other hand, if people who are suffering from serious hereditary disease are sterilized or otherwise debarred from producing children, there is no serious objection to marriage. The aim of negative eugenics is to reduce the frequency of hereditary disease and disability in the community to a level as low as possible. However the simple answer is that inspite of eugenic sterilization, new cases of hereditary disease will continue arise in the population partly because of fresh mutation and partly because of marital alliance between hidden carriers (heterozygotes) of recessive defects. Nevertheless hoped that should eugenic methods applied hereditary disease would become less frequent.
(ii) Positive Eugenics: This is a more ambitious programe of negative eugenics. The majority of socially valuable traits-let us say –intelligence and positive features though partially determine biologically are not inherited in such a simple way as say blood groups.
(b) Euthenics: Mutual interaction of hereditity and environment improves the IQ of mentally retarded children with exposure to environmental stimulation. This environmental stimulation is called Euthenics.
(c) Genetic Counselling: The most and immediate and practical service that genetics can render in medicine and surgery genetic counseling. It consists of two parts:
(i) Prospective Genetic Counselling: This counseling is given to persons before their sibling or children suffer from hereditary abnormal disease or defects. This is important in case of sickle cell anaemia, thallasimia etc. the approach requires individual for any particular defect by screening procedures and explaning to them the risk of their having affected children if both heterozygote marry leading to heterozygote marriage.
The Essay on Genetic Disorders Disease Gene Person
Genetic disorders are a topic in biology that can not be avoided. The fact is that genetic disorders can happen in humans, plants or animal. No one and nothing is safe from a genetic disorder. A genetic disorder can appear in the first years off life, or can appear much later in life when least expected. A basic principal of biology states that the behavior of chromosomes during the meiosis ...
(ii) Retrospective Genetic Coulselling: This is counseling sought after the hereditary disease has already occurred. A WHO survey shows that genetic advice was chiefly sought in connection with congenital abnormalities, mental retardation, psychiatric illness and inborn errors of metabolism and only a few sought premarital advice.
(d) Other Genetic Preventive Measures:
(i) Consanguineous Marriages: When blood relative marry each other there is an increase risk in the offspring of traits control by recessive genes and those determined by poly genes. Eg. are albinism, alkaptonuria, phenyketonuria and several others. An increase risk of premature death is noted in such offsprings. For instance in a certain Japanese city the death rate of 116/1000 was found during the 8 years of life amongst the offspring of first cousins against 55/1000 among the control group/people.
(ii) Late Marriage: Trisomy 21 in mongolism is more frequent in the eldely mother. This incidence in a mother at age 20 is only 1per3000 and by age 40 it is 1per 4000.
2. Specific Protection : Prevention of unnecessary x-ray exposure for gonads (testis) and pregnant uterus.
3. Early diagnosis and treatment :
(a) Detection of genetic carriers: So as to reduce the disease of genetic carriers, like haemophilia, etc.
(b) Prenatal diagnosis : Examination of Amniotic fluid in early pregnancy between 14-16 weeks so as to exclude chromosomal anomalies for eg. Down’s Syndrome, etc.
Genetic Counsellour can have the greatest impact and benefit when individual or couples at genetic risk are identified before they have developed symptoms themselves or produce their first affected children. Once diagnosed some of the genetic condition can be treated with complete or partial success by medical and surgical measures. For eg. diets low in phenylalanine prescribed for phenylketonuria children, person suffering from haemophilia can greatly helped by administering antihaemolytic globulin which promotes the clotting of blood.
Rehabilitation : Finally, rehabilitation with many genetic or partially genetic conditions causing physical or mental disability, much can be done for the patient and for his family in helping him or her to lead a better and useful life.
References :
1. Davidson’s Principles and Practice of Medicine (22nd Edition, 2014)
2. Park’s Textbook of Preventive and Social Medicine (22nd Edition, 2013)
