World Thalassemia Day

Thalassemia is blood disorder that occurs due to deletion of major gene fragments that plays a key role in producing the haemoglobin. In some cases, a genetic mutation in the haemoglobin genes also causes this disorder.

Haemoglobin is a molecule of a protein in the red blood cells. In this inherited disorder, the body produces an abnormal form of haemoglobin and it results in inadequate oxygen supply to the muscles.

Usually, parents become the carriers of this genetic disorder. If both parents have this disorder, there are greater chances that the next generation will have a more serious form of this disease.

Types of Thalassemia:

Based on the severity of this disorder, there are 3 main types of Thalassemia.

Thalassemia Minor -  People with this disorder don't actually have any symptoms. However, they act as the carriers of this disorder to next generation. With the lack of visibility of any symptoms, it is not possible to identify this disorder. It makes important for us to get tested if any of the family members or relatives have this disorder.

Alpha Thalassemia–This type has two sub types - Hemoglobin H disease and Hydrops Fetalis.

Hemoglobin H – This mainly affects the facial bones causing over or abnormal growth of jaws, cheeks, and forehead. Additionally, it causes enlargement of spleen, jaundice, and malnourishment by causing poor appetite, especially in children. 

Hydrops Fetalis – This is an extreme condition of the disease that mainly observed in the fatuous in the womb. Most cases, the baby will be either stillborn or dies shortly after the delivery. 

Beta Thalassemia – In this case, both parents would be Thalassemia patients and the disorder will be severe in the next generation. This also has two subtypes - Thalassemia Major (aka Cooley’s Anemia) and Thalassemia Intermedia.

Thalassemia Major (aka Cooley’s Anemia) – This type of Thalassemia is usually so severe and life threatening that the patient may require frequent blood and bone marrow transfusions. The symptoms also including infections, jaundice, poor growth, enlarged organs, and fussiness.

Thalassemia Intermedia – People with this form of Thalassemia don’t require the blood transfusion. The severity is way lesser than Thalassemia Major. However, regular diet and doctor consultation may help the patient to keep health in stable condition. 

Treatment 

The treatment of Thalassemia depends on the form and severity of it. Regular consultations with the doctor help in understanding the form of the disease and hence the treatment. Need to take diet which is nutritionally rich along with the supplements if prescribed.

In the severe forms of Thalassemia, it is advisable not to take food or supplements that contain iron. Human body develops excess iron when the blood is transfused. If the food also has iron contents, there are chances of excess iron in the body which is not good for health.

If any of the above mentioned symptoms are observed in infants below 2 years, or any of the family member has this disorder, the child needs to be taken to the haematologist (Blood related disorder specialist).

If you have Thalassemia, consult a genetic counsellor before thinking of having children.

Severe form of Thalassemia is a chronic disorder and coping with it is challenging. The patient require healthy diet, regular consultations with the doctor and most importantly moral support from the family members and friends. 

Acid Reflux in Babies

A new mommy is worried when she finds her kid spitting out every time after feeding. This spitting though is common in infants but the increased frequency or the continuous spitting could be an alarming symptom. It may be due to the disease condition called as Acid reflux. Acid reflux is a condition where in the food taken is brought up back in to the oesophagus or in the mouth from the stomach. When it continues for several times a day and for more than six months then it is called as Gastric Oesophageal Reflux Disorder (GERD).  

Acid reflux can affect any age group from infants to the adults. About 30% of new born babies are suffering from this disorder with in the first few months after birth. 

Causes of Acid reflux

The causes of reflux are the improper closure of the oesophageal sphincter which is present at the junction between the lower end of oesophagus and upper part of the stomach. It may also be due to immature development of the digestive system at the time of birth.A history of positive GERD in the infant’s family can also be a probable cause for the disease in infant.

Infants feeding on artificial foods, may also develop acid reflux due to allergies to few substances in the artificial foods.

Symptoms of Acid reflux

As infants are too little and they cannot express themselves or describe their pain it is the duty of the parents or the guardian to check out for the following set of acid reflux symptoms. Although the symptoms are not universal for all the infants, the group of one or two symptoms are sufficient for a pediatric history.

Acid reflux symptoms are prolonged crying without cause, repeated vomiting, gagging or choking during the breast feed, difficulty in the swallowing of the food or milk, cough or wheezing, refusing the food, crying for food, no gain in the weight, bad breath especially in the early morning and constant burping. 

How to prevent Acid reflux?

Soon after the birth of the baby, the pediatrician advises the mother that after each breast feed the baby has to be to held against the chest on one side and give a light pat on baby back for the burp. This is to prevent acid reflux. Even then if the child starts with spitting out then do not over feed, feed the baby at frequent intervals i.e. at every 2 hours once but in small amounts, lean the baby against chest for some time until the child burps.

In cases of formula fed babies, a change in the brand or flavor can also help to prevent the vomiting in infants. 

When to visit your doctor?

It’s time to take your little one to a child specialist, when all the above prevention methods go in vain. When the child continues to refuse the feeding, or if there is continued vomiting for days or if there is uncontrolled crying with no cause then do not delay to consult pediatrician. If neglected, it may soon result in physical growth injury to the baby.

Examination

When the child is taken to a pediatrician, he confirms the condition by the history taken from the mother, growth chart and the diet history. This is also confirmed by a Barium swallow or by upper GI endoscopy in older kids. 

Treatment

As the acid reflux is self-limiting to the age of one, it does not require any specific treatment. But in severe cases they require acid reflux medications, which includes H₂ receptors like Ranitidine, Proton prompt inhibitors (PPI’s) such as Omeprazole and antacids like Maalox.

An increased dose of antacids can result in diarrhea and the long term use may have the increased risks of rickets in growing children. As there is no much safety evidence of PPI’s to infants, discuss with the pediatrician with the proper dosage and right administration.

If the symptoms continue for a period longer than one or two years then Nissen Fundoplication is done where the junction of sphincter is wrapped together for strengthening and preventing back the food contents in to the esophagus from the stomach.

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