A Family Doctor's Tale - THALASSEMIA

DOC I HAVE THALASSEMIA

Thalassaemia is an inherited condition caused by defects in the genes that produce the hemoglobin (the red pigment which carry the oxygen  to the body) of red blood cells of patients from childhood.

Thalassemia can cause the breakup of the red blood cells resulting in severe anemia.

Thalassaemia is more common in people from Asia, African and the Mediterranean region.

There are 2 types of Thalassemia:

1.Thalassemia Major is a major illness which is inherited from both parents with the affected thalassemia gene.

The hemoglobin is low and the red blood cells are small and fragile breaking up easily to give rise to severe anemia.

2.Thalassemia Minor is a minor illness which is inherited if only one parent has the affected thalassemia gene.

There is usually mild anemia.

The red blood cells are smaller than normal.

Symptoms of thalassaemia are:

1.Pallor

2.Fatigue

3.Weakness

4.Breathing difficulty

5.Slow growth

6.Jaundice

7.Dark colored urine

8.Bone deformities

Factors that increase the risk of thalassemia are:

1.Family history of thalassemia

2. History of familial Anemia

Diagnosis of Thalassemia is through:

1.Medical history of  thalassemia or anemia

2.Blood tests show a low level of red blood cells.

3.Blood tests can also check on the type of  abnormal hemoglobin present

4.Blood test using DNA analysis can diagnose thalassemia through the presence of defective genes.

Possible complications of thalassemia are:

1.Infection - there is a risk of infection because of the low red blood cells and the breakup of the red blood cells affecting the liver

2.Bone deformities are caused by the expansion of  the bone marrow especially in the face and skull.

The bones are thin and brittle and therefore prone to fractures.

3.Slowed growth rates are present in more severe thalassemia due to the bone deformities

4.Enlarged spleen can occur due to destruction and breakup of a large number of red blood cells

5.Heart problems especially congestive heart failure and abnormal heart rhythms (arrhythmias) may occur  with severe thalassaemia due to low oxygen.

6.Iron overload can occur from frequent blood transfusions especially in the severe thalassemia.

Treatment for Thalassemia is:
For thalassemia minor, no treatment is usually required because there is rarely symptoms

For thalassemia major the patient often require frequent blood transfusions often once a month.

Blood transfusions can lead to high levels of iron in the body which must be removed  through iron chelation therapy(desferrioxamine).

In some cases a bone marrow transplant or a stem cell transplant may help.

Prevention of Thalassemia:

Thalassaemia cannot be prevented because it is a genetic disease.

However if  a family history of thalassaemia is present, genetic counselling before considering a pregnancy is advised.

Prognosis of Thalassemia:

For thalassemia minor, prognosis is very good.

A healthy lifestyle and good diet is important to prevent anemia.

For Thalassemia major, treatment with frequent blood transfusion without excessive iron overload may be able to keep a patient alive up to middle age.

A Family Doctor's Tale - HENOCH-SCHONLEIN PURPURA

DOC I HAVE HENOCH-SCHONLEIN PURPURA

Henoch-Schonlein Purpura is a bleeding disease where small blood vessels become fragile and allow blood to leak from them.

Bleeding into the skin give rise to a typical rash called purpura like a bruise while bleeding into the joints, kidneys or digestive tract can cause damage to these organs.

People of all ages are affected .

It is more common in children between the age of 2 to 10 years.

The cause is unknown but believed to be an allergic reaction to something or a bacterial infection (suspected streptococcus)

Symptoms of Henoch-Schonlein Purpura are:
1.rash is pink, red or purplish blood filled spots that do not fade
when pressed

2.the rash appears first on the buttocks and the back of arms and body especially around the ankles and elbows then spread to the front of the limbs.

3.joint pain and swelling

4.abdominal pain in many cases with vomiting and diarrhea

5.blood in the stools or urine

Diagnosis of Henoch-Schonlein Purpura is by:
1.The typical rash and its location can suggest the diagnosis of Henoch-Schonlein Purpura

2.Blood and urine tests may be done to rule out other causes and to exclude any kidney inflammation.

Blood and protein in the urine may suggest kidney involvement.

3.Abdominal X-ray may be needed if there is abdominal pain and vomiting

4.Ultrasound of kidney may also be needed for exclusion of serious kidney involvement.

Complications of Henoch-Schonlein Purpura are:
1.inflammation of the kidneys

2.joint arthritis due to bleeding in the joint

Treatment of Henoch-Schonlein Purpura:
No treatment may be needed if the condition or symptoms are mild.

For moderate or severe cases:
1. Bed rest is important

2. paracetamol for pain or fever

3. corticosteroids are needed as treatment for allergy

4. antibiotics are given if there is a bacterial infection.

Prognosis of Henoch-Schonlein Purpura is:
The illness may last a few days to a month during which the symptoms may recur.

Most patients make a full recovery and there is no long term ill effects.

In most cases inflammation of the kidneys disappears in a few days but in some patient recovery from the kidney inflammation may take up to 2 years.

A Family Doctor's Tale - MOLLUSCUM CONTAGIOSUM

DOC I HAVE MOLLUSCUM CONTAGIOSUM

Molluscum Contagiosum is a mild viral infection which appears as small shiny pimple-like rash on the body.

The virus is of the pox family and can be very infectious.


It is more common in children between 2 to 5 years of age.

It is easily spread either by direct contact or indirectly through infected clothing or towels or in a swimming pool.

The virus can also be spread through sexual contact.


The causative agent is a virus called molluscum contagiosum which is highly infectious.

Secondary infection may occurs from invasion of staphalococcus.

Symptoms of MOLLUSCUM CONTAGIOSUM are:


Pimples appear 2 to 7 weeks after the infection.
1.Occurs mainly on the trunk, face, hands and rarely on palms and soles

2.Small dome shaped with a central pimple

3.pearly white or flesh colored

4.Pimples varies between 2mm and 5mm in diameter

5.appears in groups although they sometimes occur singly

6.usually painless but can itch


Diagnosis of Molluscum contagiosum is based on the:
1.typical appearance of the rash

2.Skin scraping or biopsy  for microscopic examination.

Complications of MOLLUSCUM CONTAGIOSUM are:
1.Spread to to other parts of body and causes disfiguring
appearance

2.bacterial infection

Treatment of MOLLUSCUM CONTAGIOSUM is sometimes unnecessary.


The condition will disappear even without treatment and without leaving scars.


However this may take from a few weeks to a year.

If there is disfiguring spots on the face or if the child has low immunity, then treatment may be necessary:

1.apply to the pimples podophyllin paint or salicylic acid cream to dissolve the hard layer of molluscum

2.removal of the pimples by scraping them off (curettage) or freezing them (cryotherapy)

3.surgical removal can cause scarring so it is not recommended


Prognosis of Molluscum contagiosum is:
generally good

Prevention of Molluscum contagiosum is:

1.Avoid contact with any one who has the condition

2.Avoid casual sexual contacts

A Family Doctor's Tale - GIARDIASIS

DOC I HAVE GIARDIASIS

Giardiasis is an acute infectious illness caused by the single celled parasite Giardia lamblia

The bacteria which causes Giardiasis is the Giardia lamblia
which is an extremely hardy parasite able to live in  polluted water, contaminated food and soiled clothes.

Giardiasis infections occur most common in the small intestines.

The parasite can cling to folds of the lining of the small intestine and absorbs nutrients from the fluid in the intestines.

In this way the child may suffer from malnutrition.

The main symptoms of Giardiasis are
1. Many people with Giardiasis 75 % do not have any symptoms .


2.Symptoms of Giardiasis in other cases occur only 1-3 days after infection of the parasite


3. abdominal pain especially at the central part of abdomen


4.diarrhea with foul stools

5.abdominal bloating or gas

Doctors generally diagnose Giardiasis based on:
1. stool cultures.

2.blood tests

The complications of Giardiasis are:
Giardiasis is a disease which can cause :

1.dehydration

2.malnutrition

Treatment of Giardiasis is by:
Giardiasis is an infectious disease which can spread to other people through contaminated food and water.

Anti-parasitic medicines like metronidazole  three times a day for 10 days should work for mild to moderate disease.

Symptomatic treatment includes:
1.Rehydration salts for dehydration


2.antispasmodic drug to stop abdominal cramps

3.medicine to harden the stools such as kaolin

4.medicines to slow down the intestinal movement (lomotil or loperamide).

5.Get plenty of rest.

Prevention of Giardiasis can be by:

1.Good food hygiene and hand washing

2.Avoid contact with the feces of infected person


3.boil drinking and cooking water for 5 minutes

4.Proper filtration of water

5.proper treatment of swimming pools and filtration systems


6.Avoid raw food and vegetables especially in areas where there is giardiasis


Prognosis of Giardiasis is excellent with prompt treatment .


It is important to treat Giardiasis patients  even without symptoms to prevent the spread of Giardiasis.