Thalassaemia in children
Thalassaemia is an inherited blood disorder in which the body makes too little normal haemoglobin, the protein in red blood cells that carries oxygen. It is passed on from parents through their genes; it is not an infection and cannot spread from one person to another.
Types
- Thalassaemia trait (minor): one affected gene. Usually no symptoms or only mild anaemia, and no treatment is needed — but it is important to know before marriage and pregnancy.
- Thalassaemia intermedia / non-transfusion-dependent: moderate anaemia; some children need transfusions at times.
- Thalassaemia major: severe anaemia from early childhood that needs regular blood transfusions.
- Alpha thalassaemia ranges from a silent carrier state to Haemoglobin H disease and, rarely, a severe form before birth.
Signs
Paleness, tiredness, poor feeding or weight gain, yellowish eyes, a swollen abdomen from an enlarged spleen, and, if untreated, changes in the facial bones.
Treatment and care
- Regular transfusions to keep haemoglobin at a safe level and allow normal growth.
- Iron chelation medicines, because repeated transfusions cause iron to build up in the heart, liver and glands.
- Regular monitoring of growth, iron levels, heart, liver and hormones, plus vaccinations.
- Bone marrow (stem cell) transplant from a matched donor can cure thalassaemia major in suitable children; newer gene-based therapies are being studied and offered in selected centres.
Prevention
A simple blood test (HbA2 / HPLC) can show whether a person carries the trait. Couples who are both carriers can be counselled, and prenatal testing is available in early pregnancy.
Anaemia in children
Anaemia means a lower-than-normal haemoglobin level. The most common cause in Indian children is iron deficiency, but anaemia can also come from vitamin B12 or folate deficiency, worm infestation, chronic illness, inherited conditions such as thalassaemia, or problems in the bone marrow.
Signs include paleness, tiredness, irritability, poor appetite, difficulty concentrating and breathlessness on exertion. Treatment depends on the cause, so a blood test before starting iron is worthwhile — especially if anaemia does not improve, keeps coming back, or appears with low platelets or white cells.
Aplastic anaemia
In aplastic anaemia the bone marrow stops making enough red cells, white cells and platelets. Children may look pale, bruise or bleed easily, and get frequent infections.
Diagnosis needs blood tests and a bone marrow examination. Treatment includes supportive care (transfusions and infection prevention), immunosuppressive therapy, and, for many children, a bone marrow transplant, which offers the best chance of cure when a matched donor is available.
Childhood cancer
Cancer in children is uncommon and differs from adult cancer. The most frequent types are leukaemia, brain and spinal tumours, lymphoma, and tumours of the kidney (Wilms), eye (retinoblastoma), nerves (neuroblastoma), bone and soft tissue.
Many childhood cancers are highly treatable, and outcomes are best with early diagnosis and care from a team — pediatric oncologist, surgeon, radiation oncologist, nurses, and support for nutrition, schooling and emotional wellbeing. Treatment follows established pediatric protocols and is planned with the family at every step.
Sickle cell disease
Sickle cell disease is an inherited condition in which an abnormal haemoglobin (HbS) makes red cells stiff and sickle-shaped. These cells block small blood vessels and break down early, causing anaemia.
Children may have episodes of severe pain, swelling of the hands and feet, frequent infections, tiredness and slow growth. Serious complications include stroke and acute chest syndrome, which need urgent hospital care. Diagnosis is by a blood test (HPLC or haemoglobin electrophoresis).
Care includes pain management, plenty of fluids, avoiding extreme cold or heat, vaccinations and infection prevention, hydroxyurea for many children, transfusions when needed, and regular check-ups. Bone marrow transplant can be curative for selected children.
Leukaemia
Leukaemia is a cancer of the blood-forming cells in the bone marrow and is the most common childhood cancer. Acute lymphoblastic leukaemia (ALL) is the most frequent type in children, followed by acute myeloid leukaemia (AML).
It may show as paleness, fever, bruising or bleeding, bone pain, or swollen glands. Diagnosis needs blood tests and a bone marrow examination. Treatment is with chemotherapy given in planned phases over two to three years for ALL, and a high proportion of children with ALL are now cured with timely, complete treatment.