Thalassemia

Thalassemia

A type of inherited autosomal recessive blood illness known as thalassemia, commonly known as Mediterranean anemia, is characterized by faulty hemoglobin production. The defective hemoglobin that is produced causes incorrect oxygen delivery and red blood cell death. Hemoglobin, the protein in red blood cells that delivers oxygen, is made by the body differently in thalassemia sufferers due to variation or missing genes. Mild to severe microcytic anemia occurs in people with thalassemia because they produce less hemoglobin and have fewer circulating red blood cells than average.

Pathophysiology

Hemoglobin (HbA), which makes up the majority of adult hemoglobin, is composed of two globin chains and two protein chains organized in a heterotetramer. Patients with thalassemia have either in- or out-of-chain globin abnormalities, which result in the generation of defective red blood cells (in sickle-cell disease, the mutation is exclusive to the out-of-chain globin). The chain of the hemoglobin molecule that is damaged determines how it is categorized. Production of the globin chain is impacted by -thalassemias, but -thalassemia also affects the globin chain. On chromosome 11, a single gene is responsible for encoding the globin chains. On chromosome 16, two closely related genes are responsible for encoding the globin chains. Thus, two loci encode the chain and four loci encode the chain in a typical person with two copies of each chromosome. African or Asian people have a high prevalence of having one of the loci deleted, which increases their risk of developing thalassemia. 

Causes

• Autosomal recessive disorder

Sign and symptoms

• Pallor
• Unexplained fever
• Poor feeding
• Poor weight gain
• Enlarged spleen, liver
• Greenish brown/black coloration of skin
• Thickening of cranial bone
• Bone pain osteoporosis, pathologic fracture
• Arrhythmia
• Cirrhosis
• Juvenile diabetes
• Headache
• Anorexia
• Recurrent infection

Diagnosis

• History and physical examination
• CBC and RBC
• Hb morphology
• Serum
• Bone marrow aspiration
• X-ray skull

Treatment

• Multiple blood transfusions can result in iron overload. The iron overload related to thalassemia may be treated by chelation therapy with the medications deferoxamine, deferiprone, or deferasirox.
• Deferoxamine is only effective via daily injections which make its long-term use more difficult. It has the benefit of being inexpensive and decent long-term safety.
• Iron chelation therapy
• Splenectomy
• Bone marrow transplantation

Supportive management

• Hygiene maintenance and routine immunization.
• Folic acid supplementation.
• Emotional support as it is long term illness.

Nursing management

• Look for any clinical symptoms or issues in the child.
• administer blood transfusions using the appropriate safety measures.
• Watch out for signs of iron excess (abdominal pain, emesis, decreased a level of consciousness).
• Provide pre- and post-operative care if a splenectomy is necessary.
• If necessary, get ready for a bone marrow transplant.
• Implement infection control measures.
• Encourage comfort and rest, offer assistance with a daily task.
• Limit your intake of foods high in vitamin C and low in iron, such as spinach, beans, green vegetables, almonds, and cooked liver.
• Encourage your child to limit activities that put them at higher risk of breaking something.
• Support the family, inform them of the disorder, the necessity for compliance with blood transfusion therapy, and the need for follow-up.
• the disorder's genetic basis.
• Help the family and kid deal with the disease. Inform the child about in-home care and encourage them to lead as normal a life as they can. If one is available, suggest it to the family.