Dr. R Peter Ram

Thalassemia is a type of a disease, resulting in the abnormal production of hemoglobin in the blood. Hemoglobin stimulates oxygen circulation all over the body. Therefore, a dip in the hemoglobin count can lead to anemia, a disease inducing weakness as well as fatigue. Acute anemia can take a toll on the organs and ultimately cause death.

Severe thalassemia in children yields symptoms, such as dark urine, abdominal swelling, slow growth, jaundice, a pale appearance and deformed skull bones. Diarrhea, frequent fevers and eating disorders are also common.

Treatment:

1. Blood transfusions: Regular blood transfusion is the only treatment needed for beta thalassemia aiming to keep sufficient Hb level to avoid long-term complications, though bone marrow transplant is radical cure for the disease.
2. Iron chelation therapy: The hemoglobin in the red blood cells is rich in iron-protein that gets deposited in the blood with regular blood transfusion. This condition is known as iron overload as it damages heart, liver and various parts of the body. Iron chelation therapy is used to prevent this damage as it helps to remove the excess iron from the body.  Deferoxamine and Deferasirox are two such medicines used for this therapy.
3. Folic acid supplements: Folic acid being a B vitamin produces healthy red blood cells and is therefore recommended as a substitute for the above procedures.
4. Transplant of blood and marrow stem cell: A blood and a marrow (a substance within the cavities of bones where blood cells are produced) transplant replaces the faulty stem cells with healthy ones contributed by a donor.

Galactosemia in infants. - know the reasons behind it!

An infant is usually called a bundle of joy and with good reason. There are simple and carefree, and bring a smile to your face with their antics. However, the mood and health of an infant can be tarnished due to an issue which is known as galactosemia.

What is galactosemia?
When a baby has galactosemia, he or she will have a problem when it comes to digesting galactose, which is something that is present not only in milk but in all milk products. Galactose is a sort of sugar, just like fructose and glucose is. As a matter of fact, lactose, which is what milk has, is, in fact, a combination of glucose and galactose. Also, when lactose is processed, it is broken down by the human body into its constituents.

The condition is something that is passed down through the genes of the parents of the baby. The condition would occur if the gene which causes a tendency for a baby to have galactosemia is present not only in one parent but both of them. A baby who has the condition will be lacking an enzyme which is known as the galt enzyme. The enzyme could also not be functioning as it should be under normal circumstances.

When it comes to the problem, it is very important, to say the least, to detect it sooner rather than later as if there is a build-up of unprocessed galactose which is allowed to occur, it can affect the baby adversely and in some cases, it can also be threatening to the life of the baby!

How does it affect a baby?
The problems which can erupt due to galactosemia include issues which affect organs such as the brain, eyes, liver and kidneys. It is interesting to take note of the fact that these are all organs which either have something to do either processing the blood or are heavily dependent on it. While a baby is not in the position in which he or she can communicate the issues that are being faced, when keeping an eye out for galactosemia, the signs which are displayed include an irritability of the baby as well as lacking consumption of the milk of the mother.

Even though galactosemia may not be the case, a doctor should be consulted as the exacerbated issue can include seizures and jaundice. It is to be kept in mind that galactose is something that can be found not only in the milk of the cow but also human milk as well as the milk of other animals such as goats.

Has your child been coughing frequently? Is the cough chronic in nature, making your child breathe rapidly and does he/she complain about a tightened chest? These symptoms signify that your child is having asthma. Asthma is a medical condition characterized by paroxysmal wheezing respiration dyspnoea. It is common in children and an affected child experiences difficulty in breathing, and a whizzing sound is produced, especially during expiration. Asthma may lead to severe health complications and needs immediate diagnosis and treatment.

Diagnosis: The diagnosis of asthma is based on the symptoms, medical history and a physical examination of the child.

The different modes of asthma diagnosis are as follows:

1. Medical history and symptoms: You must tell the doctor about any history of breathing trouble with your child or whether there are chances of other inherited health conditions. You must explain your child's symptoms properly, which may include coughing, wheezing, chest pain or tightness and others if observed.
2. Physical examination: A physical exam will be carried out in your child where the doctor will listen to his heart and lungs, and look for eye or nose allergies.
3. Medical tests: A chest X-ray of the child has to be carried out, along with a simple lung function test known as spirometry. This test measures the amount of air present in the lungs and determines how fast it can be exhaled. Spirometry enables a doctor to determine the severity of the asthma. Some other tests are also carried out for the identification of asthma triggers. They include allergy skin testing, blood tests and X-rays to know if sinus infections are affecting the asthma. An asthma test determines the amount of nitric oxide in your child's breath.

Treatment: Based on your child's severity of asthma symptoms and his medical history, the doctor will provide you with an action plan to treat the same. This action plan explains all the medications your child requires, the dosage and schedule of the medicines. The plan also includes points on what to do when the asthma worsens and when an emergency treatment is required. Anti-inflammatory drugs are prescribed to children who require bronchodilator medication. All asthma medicines used by adults can be used in case of children but in lower dosages.

You should give the asthma medications to your child using a home nebulizer or a breathing machine. A nebulizer delivers asthma drugs by transforming them from liquid to a mist. The child gets the drug by breathing it via a face mask.

In order to control and manage asthma in children, they must avoid the triggers and should keep away from any source of smoke. A doctor must be consulted to know about the best diagnosis and treatment methods.