Monday, 20 October 2014

Thalassemia – An Inherited Blood Disorder

Thalassemia is an inherited blood disorder which tends to be passed down through families where the body makes an abnormal form of haemoglobin, the protein in red blood cells which carries oxygen and this disorder could lead to great destruction of red blood cells resulting in anaemia.

Anaemia on the other hand is a disorder wherein the body does not have sufficient normal, healthy red blood cells –RBC. Red blood cells are important since they contain substance known as haemoglobin which carries the oxygen from the lungs to the various areas of the body which is produced in the marrow of the bone,(a spongy substance found within the larger bones), from the iron which the body obtains from the food consumed.

In the case of thalassemia the production of haemoglobin is low leading to anaemia with a reduced oxygen carrying content. If the body does not receive sufficient amount of oxygen one may tend to feel tired, breathless, faint and drowsy.

Alpha/Beta Thalassemia

This disorder could be inherited from one of the parents who could be the carrier of the disease and is caused by either a genetic mutation or a deletion of some key genes. Thalassemia often occurs among people of Greek, Italian, Middle Eastern, Southern and African descent.

The two kinds of thalassemia are alpha thalassemia and beta thalassemia. In the case of alpha thalassemia, one of the alpha globin genes has a mutation or an abnormality while in the case of beta thalassemia; the beta globin genes are affected.

Thalassemia could be severe or mild and some people may not show any symptoms or mild anemia. The severe type in the United States is known as Cooley’s anemia which tends to appear during the first two years of life and the person may have severe anemia with slowed growth, delayed puberty and problems with the liver, heart, spleen or bones.

Blood Transfusion/Bone Marrow Transplant/Cord Blood Transplant

If the person is not given timely treatment, there could be serious types of thalassemia leading to complication which could include organ damage, heart failure and even death. Thalassemia can be diagnosed through blood test.

DNA tests could also be needed to identify the exact type of thalassemia. A questionnaire about the family origin is also done as an initial screening to check the risk of this disorder. Treatment includes blood transfusion and other options to remove excess iron from the body. If there are not symptoms or the symptoms are mild, the need for any treatment is not essential.

However in severe cases, a bone marrow transplant is done which is the only known cure for thalassemia and cord blood transplantation wherein the blood cells are used from the umbilical cord of a new-born baby with the consent of the parent, though the procedure could cause a range of complications and may not be suitable for all.

Some of the problems faced with BTM are that the person may need frequent blood transfusions which may result in a build-up of iron in the body causing serious health issues. People who tend to receive regular blood transfusion for BTM should consider iron chelation therapy which helps in removing the excess iron from the body.

Thursday, 16 October 2014

Drink Spiking and Date Rape Drugs

Drink Spiking – Mind Altering Substances 

This health topic is to bring about awareness among our present generation who could be at risk of grave consequences and being forewarned is forearmed when faced with such situations. A glance at the news daily gives us variety of such incidents of rapes; murder etc. and our youngsters should be informed and trained to handle such situations while they party along with their friends and acquaintance.

Many tend to be victims of drink spiking where drugs or alcohol seem to be added to their drinks without their knowledge and in some cases, the date rape drugs could be used to spike a person’s drink in order to attempt a sexual assault. Drink spiking is when the mind altering substances like drugs or alcohol is added to the drink without letting them know about it and is often done to take advantage of the victim.

Mind altering could mean that the victim would be unaware of his/her act or how they tend to behave with the other people while they are under the influence of the drugs. Enjoying a party at night and celebrating a special occasion with friends could be a great idea but like everything with its advantage as well as disadvantages, caution needs to be practised in everything that is said and done.

Common Substance – Alcohol 

Alcohol is the most common substance that is used to spike a drink which can be added to a soft or a non-alcoholic drink. As the party goes on and drinks are consumed, people get involved in the enjoyment without being watchful over their drinks which at times can put the victim at a risk for date rape making the person an easy target for perpetrators.

 A date rape drug also known as predator drug is intentionally used as incapacitating agent in assistance of the execution of drug facilitate sexual assault – DFSA. Though drink spiking is often done with the intention of malicious acts which could include violence, drug assisted sexual assaults and thefts; it could also be used for misguided jokes or pranks.

Date rape drugs could be particularly dangerous when they are combined with alcohol since the mixture tends to have a powerful anaesthetic effect on the victim and in some extreme cases, it could also lead to a coma or even death. These are available in liquid, powder or tablet form and do not have any unusual taste or smell.

Seek Help at the Earliest from Trusted Source

If the person thinks that their drink has been spiked they should immediately get in touch with someone whom they can trust and seek help from a close reliable friend, a relative, a medical professional or the police.

The effect of the date rape drug is seen within 15-30 minutes and the symptoms tend to last for several hours thereafter. If the person tends to pass out, it could be difficult to know the full effect of the drug. The person may also feel some of the symptoms of the effect of the drug even after a night’s sleep though it would depend on which drug had been used on the victim.

They may experience some of the symptoms like difficulty in concentrating or speaking, loss of balance and difficulty in movement, lowered inhibitions, visual problems with blurred vision, memory loss or blackout, paranoia, a feeling of distrust or fear of others, feeling confused or disorientated especially on waking, nausea and vomiting or unconsciousness. Drink spiking is a very grave offence and can be punishable with imprisonment. Remember to drink sensibly and remain safe.

Monday, 13 October 2014

Rickets – Affects Development of Bones

Rickets is a condition which affects the development of bones in children causing the bones to be soft and weak which leads to bone deformities. It is the most frequent childhood diseases in several developing countries, the main cause being the deficiencies of vitamin D though lack of calcium in the diet could also lead to rickets.

Severe diarrhoea and vomiting could also be the cause of the deficiency. Rickets could also occur in adults and is known as osteomalacia or soft bones but the majority of the cases often occur in children suffering from severe malnutrition which could be the result of famine or starvation during the initial stage of their childhood.

Children could also be born with genetic form of rickets in some rare cases. Lack of vitamin D and calcium being the common cause of rickets, is most essential for strong and healthy bones. Vitamin D comes largely from the exposure to sunlight though it is also found in foods like oily fish and eggs.

A child with insufficient vitamin D or calcium could develop rickets and the condition is common in children with dark skin, premature children and those taking medication which may interfere with vitamin D.

Include Vitamin D & Calcium 

Prevention from rickets can be done by maintaining a diet which includes vitamin D and calcium along with sufficient sunlight wherein the hands and face should be exposed to the sunlight for around 15 minutes several times a week during spring and summer in order to obtain enough vitamin D.

Supplements of vitamin D, in some cases are also recommended to reduce the chances of rickets. Signs and symptoms of rickets include dental problems, bone tenderness, muscle weakness, increased tendency for fractures and skeletal deformity.

Toddlers have bowed legs, and in older children, knock-knees or windswept knees, Cranial deformity like skull bossing, pelvic deformity, spinal deformity and growth disturbance. The patient also shows signs of low level of calcium in the blood known as hypocalcemia, tetany which is uncontrolled muscle spasms all over the body, soft skull – craniotabes, swelling or Costochondral, double malleoli sign due to metaphyseal hyperplasia, Harrison’s groove and widening of wrist which is the early signs of this ailment.

Exposure to Ultraviolet B Light 

Exposure to ultraviolet B light which can be availed when the sun is highest in the sky can be undertaken to overcome the deficiency of vitamin D. Besides this, cod liver oil, halibut liver oil and viosterol are the other sources of vitamin D.

With sufficient amount of ultraviolet B light from the sunlight daily and with essential supplies of calcium and phosphorus intake can contribute in preventing rickets. Vitamin D replacement has proved to improve rickets through ultraviolet light therapy as well as with medicines.

Children who do not tend to get sufficient amount of vitamin D are at greater risk of suffering from rickets and hence they should be treated by providing them with foods containing calcium and vitamin D or some vitamin supplements.

Should the child face problems in absorbing vitamins and minerals, a higher need of supplement dose or a yearly vitamin D injection can be given.

Saturday, 11 October 2014


Glomerulonephritis – Several Renal Diseases 

Glomerulonephritis which is also known as glomerular nephritis is referred to several renal diseases which usually affect both the kidneys. It is the damage to the tiny filters in the kidneys known as the glomeruli.

The glomeruli are the structures present in the kidneys that are made up of tiny blood vessels which help to filter blood and eliminate the excess fluid. If they are damaged, they do not function properly leading to kidney failure and the condition of the damage is known as glomerulonephritis. The diseases are often characterised by inflammation either of the glomeruli or small blood vessels in the kidneys but not all the diseases have an inflammatory component.

It is caused by the immune system attacking the healthy body tissue and in most cases, this condition does not cause much noticeable symptoms and hence diagnosed only when a urine or blood test is done for another condition. In some severe cases, glomerulonephritis may cause some visible blood in the urine or the urine may tend to be frothy with swelling of the legs or other areas of the body – oedema could also tend to develop. Conditions which may pose a problem with the immune system are vasculitis and a form of lupus known as systemic lupus erythematosus.

Serious Condition – Life Threatening 

Glomerulonephritis tends to be a serious condition and could be life threatening which requires immediate treatment. This condition is at times call nephritis which can be both acute as well as chronic glomerulonephritis. Treatment would depend on the cause and the severity of the condition while mild cases may not need any treatment.

Treatment could be started by making changes in the diet like the consumption of less salt in order to reduce the strain on the kidneys with medication to reduce blood pressure and help to protect the kidneys.

Though treatment is often effective in several cases, there could be further problems may tend to develop which may include high blood pressure, chronic kidney disease, damage to other organs and kidney failure.

The two categories of glomerulonephritis being acute and chronic, in acute condition, it starts due to an infection like a strep throat or an abscessed tooth and caused by problems with the immune system overreacting to the infection which could disappear without any treatment. If the condition prevails, immediate treatment would be essential to prevent any long term damage to the kidneys.

Genetic Disease – Hereditary Nephritis Development

Illness which trigger acute glomerulonephritis include systemic lupus erythematosus or SLE or lupus, amyloidosis which are proteins that are deposited in organs and tissue that are harmful, Wegener’s granulomatosis which causes inflammation of the blood vessels, polyarteritis nodosa which is a disease wherein the cells attack arteries, strep throat and Goodpasture’s syndrome which is a rare autoimmune disease where the antibodies attack the lungs and the kidneys.

Over a period of time, the chronic form may develop with no or few symptoms which could cause irreversible damage to the kidneys leading to complete kidney failure. It could also at times be caused by genetic disease and hereditary nephritis develops in young men having poor vision and hearing. Immune disease could also be the cause of chronic glomerulonephritis where a history of cancer could also be a risk factor.

Friday, 10 October 2014


Albinism – Inherited Genetic Disorder 

Albinism refers to a group of inherited genetic disorder which causes the skin, eyes, or hair to have little or no colour and is also associated with vision problems.

Individuals have inherited altered genes which do not create the usual amount of pigment known as melanin and can affect people of any race. Based on the amount of melanin a person may have, they could have very pale hair, skin and eyes, though some may have brown or ginger hair and skin which can tan.

Children with albinism are born to parents who have normal hair and eye colour of their ethnic backgrounds and sometimes they may not realise that they have albinism. Common myth is that people with albinism have red eyes but there are different types of albinism with various amount of pigment in the eyes.

Some people with albinism tend to have reddish or violet eyes while most of them have blue eyes. Some even have hazel or brown eyes though all forms of albinisms are associated with vision problems.

They may also have several eye conditions like photophobia or sensitivity to light wherein they may feel dazzled by bright light, problems with eyesight with the need to wear glasses though vision is at times impaired even with glasses or involuntary eye movements.

Lack of Pigment – Melanin 

Albinism is caused due to the lack of pigment melanin that gives the skin, hair and eyes their colour and in the case of albinism, the cells producing melanin does not function because of genetic mutations or faulty genes.

Various genes are responsible for the different types of albinism. The most common type of albinism is Oculucutaneous albinism – OCA with several types of genes have been identified which may cause OCA. There are two main types of albinism in humans namely oculocutaneous which affects the eyes, skin and hair while ocular affects only the eyes.

Several individuals with oculocutaenous albinism seems to appear white or pale since the melanin pigments which are responsible for the black, brown and some yellow coloration are absent. Ocular albinism results in pale blue eyes which may need genetic testing for diagnose.

In the case of albinism, their skin tends to burn easily when exposed to the sun since they lack the dark pigment melanin which helps in protecting the skin from the sun’s ultraviolet radiation

Vision Problem

In normal case, the human eye tends to produce sufficient pigment to colour the iris brown, blue, green, lending opacity to the eye. Besides, in photographs, people with albinism tend to demonstrate `red eye’ due to the red retina that is visible through the iris and lack of pigment in the eyes also are the cause of vision problems which is related as well as unrelated to photo sensitivity.

Albinism does not need treatment though the associated skin and eye problem need to be treated. It does not get worse and those afflicted with albinism tend to lead a healthy life like the rest of the individuals though the lack of pigment blocking ultraviolet radiation increases the risk of melanomas or skin cancers together with other problems.

Thursday, 9 October 2014

Henoch Schonlein Purpura

Henoch Schonlein Purpura
Henoch Schonlein Purpura – Inflammation of Small Blood Vessels

Henoch-Schonlein purpura – HSP, is a disease which involves inflammation of small blood vessels and is usually seen in children resulting in a skin rash accompanied with joint and tummy pain. The medical term for inflammation of the blood vessels is known as `vasculitis’, meaning they get irritated and swollen. The inflammation could cause the small surface blood vessels to bleed in the skin resulting in the rash which is seen and known as HSP.

It could also affect blood vessels in the kidneys as well as in the bowel. The main symptom is rash which tends to appear with numerous small bruises and a raised appearance over the body, especially on the bottom and legs. Though this disease may affect people of any age group, it often occurs in children in the age groups of 2 and 11 and is more common in boys than girls.

 HSP is more likely to be severe in adults when compared to children and often ends after a period of four to six weeks and sometime there is a recurrence of symptoms over the period without any long term effects. Treatment is essential if organs such as kidneys and intestine tend to get affected with important follow up to be undertaken in order to prevent any serious complications.

Tests – Blood/Urine Dipstick/Stool/Skin Sample

Kidney inflammation often gets better without any complication or the need for treatment and rarely leads to kidney failure or damage. It is essential to keep a check on any early signs of kidney problems with regular urine tests as directed by the physician.

To diagnose HSP, tests like blood test is done to see how well the kidneys are functioning or to check for possible signs of infection, urine dipstick test is done to check traces of blood or protein in the urine since the kidneys may at times be inflamed which may develop weeks or months after the rash has disappeared.

 Stool test is conducted to check for signs of blood and skin biopsy where a small sample of skin is taken and sent to the laboratory for examination under a microscope. This disease is not usually serious and tends to improve on its own after days or weeks without any treatment. Anti-inflammatory medication can be taken to relieve some of the joint pain together with rest.

HSP Associated to Vaccination/Foods/Chemicals/Insects Bites

At times steroid medication could also be helpful in case of severe stomach pain. Physician need to be contacted if the child’s urine tends to be red, rusty or blood colour, if the urine has more of protein on the dipstick two days in a row, or severe tummy ache and vomits green fluid – bile, joint swelling tend to be painful, to the extent of being unable to walk etc.

The cause of this disease in unknown but it is believed that the body’s immune system plays a role in affecting the blood vessels. Also an abnormal immune response to an infection could also be the result of this disease.

Some cases of HSP have been associated to vaccinations for typhoid, yellow fever, cholera, measles or hepatitis B, drugs, foods, chemicals and insect bites. Some experts are also of the opinion that HSP is associated with the colder weather of winter and fall.

Sunday, 5 October 2014

Reye’s Syndrome – Serious Liver and Brain Damage

Reye’s Syndrome
Image credit:Usmlepathslides
Reye’s syndrome is a rare condition which causes serious liver and brain damage and can affect any child, teen or adult without warning. The body organs get affected with serious damage to the brain and the liver. If timely treatment is not rendered it could lead to permanent brain injury or even death.

The exact cause of this disease in unknown though researchers have established a link between Reye’s syndrome and the use of aspirin together with other salicylate containing medicines purchased over the counter. Due to the possibility of the link with aspirin, the Medicines and Healthcare products Regulatory Agency – MHRA have recommended that children below the age of 16 should avoid taking aspirin without the advice of the physician.

Some of the symptoms may include: loss of energy, persistent vomiting, and mood swings, like irritability or severe confusion and anxiety – delirium, drowsiness which could eventually lead to coma. It is a two phase illness since it is usually associated with a previous viral infection like influenza, cold, or chicken pox. At times Reye's syndrome is often misdiagnosed as meningitis, diabetes, encephalitis, poisoning or drug overdose, Sudden infant death syndrome or even psychiatric illness.

Occurs during Recovery from Viral Illness 

Reye Syndrome occurs when a person begins to recover from a viral illness and the primary symptoms include uncontrolled vomiting besides mental status changes, which are generally due to increased intracranial pressure and brain swelling.

If left untreated the progress of the disease could be fatal. At times even if diagnosed and treated early, some tend to still have progressive condition which could lead to death or permanent brain damage. Abnormal collection of fat tends to develop in the liver and other organs in the body together with severe increase of pressure in the brain and if not treated in time, it could result in death within a few days or even a few hours.

According to statistics it shows that when Reye’s syndrome is diagnosed and treated in its initial stages, there are good chances of recovery and if delayed and more severe, the chances for successful recovery and survival are very less.

Treated as Medical Emergency

When a person is diagnosed with Reye’s syndrome it should be treated as a medical emergency since it can damage the liver and brain quickly. If a child is suffering from this disease, they should be taken immediately to an intensive care unit in order that their body’s functions can be supported while they are being treated.

It is estimated that 8 out of 10 people who suffer from this condition survive due to the advance in diagnosing and the treatments though some children tend to develop some degree of brain damage after recovery. Diagnose of Reye’s syndrome is done clinically and it is considered in any child suffering from unexplained brain dysfunction, vomiting and liver dysfunction together with the support of any recent viral infection and aspirin use.

Laboratory studies revealing an increase in liver enzymes and ammonia levels with marked decreases in serum glucose also support the diagnosis of this disease though one should also make a note that other metabolic disorders could also cause similar symptoms.