Thalassemia: Long Case

CONTENTS

1. History
2. Examination
3. Summary
4. List of problems
5. Management plan
6. Possible questions that could be asked during the discussion 

Thalassemia is one of the commonest long case topics. It is more commonly given in Paediatrics than in Medicine. The format includes the history, examination, summary, list of problems and management.  First, a proper history should be taken.

HISTORY

• Introduction of the patient
• Name
• Sex
• Age
• From
• Occupation
• History is taken from .................... who is educated up to .................. and the history is reliable
• Presenting Complain

If you are given a thalassemia patient, the parents or the guardians know the diagnosis. The aim of the history in a patient with thalassemia is mainly to find management difficulties, to inquire about complications of the illness and to find out other problems. The diagnosis has already been made and the parents often know the type of thalassemia and the type of medication which the child is on. Therefore, history may not be taken to diagnose the disease. Therefore, the presenting complaint can be begun as "This is a diagnosed patient with thalassemia major, present to hospital for routine blood transfusion". 

• History of presenting complaint (HPC)

Start the HPC by mentioning whether the child is a product of a consanguineous marriage or not. Then, start telling the story from the birth up to the diagnosis of the disease with special emphasis on the following details. If there are other affected family members, mention about them too.

• Was the child normal at birth
• What were the initial symptoms and the age of onset of symptoms - children with thalassemia major show symptoms at the age of 6 months. This is the age at which most of the red blood cells with fetal hemoglobin are replaced by red blood cells with adult hemoglobin. Children with thalassemia intermedia have a late presentation.
• The presenting symptoms at the time of diagnosis could be pallor, poor appetite, failure to thrive, vomiting, sleeplessness, irritability, jaundice, etc.
• Then describe how the diagnosis was made and the treatment the child is on. 
• Describe the frequency of blood transfusion, iron levels just before each blood transfusion, the type of chelator the child is on, last ferritin level. Ideally, the hemoglobin level just before blood transfusion should be around 10 g/dl. If it is low, it indicated inadequate blood transfusion.The ferretin levels should not exceed 1000ng/ml. If it is >1000ng/ml, iron chelation should be started. 

Then you should focus on the complications of the disease, complications of blood tranfusion and side effects of iron chelators. 

• Complications of the disease - bone deformities, growth retardation, complications of splenomegaly (discomfort in the left upper abdomen, bleeding manifestations, anemic features), complications of chronic anemia (palpitation, heart failure)
• Complications of blood transfusion - presence of blood borne diseases (hepatitis B, hepatitis C, malaria, etc.)
• Complications due to iron overload (the excess iron go and deposit in the hypothalamus, the thyroid, the pancreas and the heart and gives rise to following complications)
• Hypothalamus - hypogonadism (ask about delayed puberty), growth hormone deficiency (growth retardation)
• Thyroid - ask about features of hypothyroidism such as lethargy, cold intolerance, weight gain, increased sleepiness, etc.
• Pancreas - the excess iron destroy the beta cells that produce insulin and give rise to diabetes mellitus (ask about features of diabetes such as polydypsia, polyuria and polyphagia)
• Heart - the iron goes and deposits in the heart. The excess iron form free radicals which destroy the myocardium. As a result, the heart enlarges. This can even lead to heart failure.
• Side effects of iron chelators 
• Desferrioxamine - impaired vision and hearing, reduced growth, skeletal lesions, increased risk of infections (Yersinia enterocolitica, Yersinia pseudocolitica)

Then fill the rest of the history.

• Past medical history 
• Past surgical history - splenectomy (If splenectomy has been done, describe about immunization against capsulated organisms), pathological fracutres
• Family history - family members with similar illness, any deaths involving anemia among relatives, incidence of malaria in the family (carriers of thalassemia has a certain level of protection against malaria)
• Immunization history
• hepatitis B
• capsulated organisms
• Hib vaccine
• pneumococcal vaccine
• immunization against meningococcus
• Drug history
• is the child using an infusion pump to deliver desferrioxamine
• oral iron chelating drugs (deferepfone)
• oral penicillin prophylaxis after splenectomy
• Allergic history -
• allergic reaction during blood transfusion
• allergy to Desferrioxamine
• Dietary history
• were the parents instructed not to give any iron rich foods to the child
• promote drinking tea and reduce intake of vitamin C.
• Social history

Social history plays a very important part in the history. Thalassemia is a chronic disease requiring frequent hospital admissions. Sometimes more than one child can be affected by the disease. This can be a huge burden to the family. It might have caused a lot psychological, economical and physical stress to all family members. Therefore, these problems should be asked and described clearly. Also note down the following information.

• Distance from the home
• Transport facilities (bus fees - some examiners always ask whether you know th bus fee, because they have to come to hospital several times a month which will cost them alot)
• Family income
• Education level of the parents
• Schooling of the child
• Genetic counselling given or not
• Whether the parents understand about the nature of the disease

Examination

General Examination

• Height, weight - plot on a chart and comment on it. Also mention that you would like to know the mid parental height to find out whether there is  growth retardation.
• Dysmorphic features (prominent maxilla, frontal bossing, malocclusion of teeth, dental caries, recurrent ottitis media)
• Dyspnoec or not
• The child may not be pale because he is most probably transfused already, but you should look for features of chronic anemia such as angular stomatitis, smooth tongue, etc. 
• Jaundice - thalassemic patients are mildly jaundiced. You might not notice yellowish discoloration of eyes at first sight. Therefore, you should ask the child to turn the eye to a side to see jaundice clearly. 
• Look for deformities due to pathological fractures
• Hyperpigmentation
• Leg ulcers - common in hemoglobinopathies
• Desferrioxamine mark on the abdomen
• Pubertal stage
• you may not be able to examine the child's genitalia during the exam, but make sure to say that you would like to examine the child's genitalia to find the pubertal stage.
• Axillary hair
• Pubic hair
• Ankle edema

Cardiovascular System Examination

• Look for features of cardiomegally

Abdominal Examination

• Desferrioxamine mark
• Splenomegally
• Hepatomegally

Nervous System Examinatio

• Consciousness
• Orientation
• Fundus
• Focal neurological signs

Summary

In the summary you should include the important aspects of the history and examination.

List of Problems

• Medical problems
• Acute problems - Anemia, fractures
• Chronic problems - hypothyroidism, growth retardation
• Psychological problems
• depression
• parental understanding regarding the illness
• anxiety
• Social problems
• Economical problems

Management Plan

Management plan should be targeted to address all the problems that you have listed above.

• Arrange blood transfusion sessions to keep the hemoglobin levels >10g/dl. Frequent blood transfusion prevents bone malformation, cardiac failure, splenic complications and iron overload from increased absorption.
• Types of blood for transfusion. 
• washed red cells
• packed red cells
• frozen blood
• If hemoglobin level is <8 g/dl blood transfusion is necessary
• Iron chelation is started when serum ferritin level exceeds 1000 ng/ml.
• desferrioxamine - 
• administration is via subcutaneous route through a syringe pump, 3-4 times a week depending on the level of iron overload, infused at an average rate of 20-60 mg.kg
• dosage - depends on the prevailing iron overload
• role of vitamin C
• measure serum ferritin levels every 6 months
• Defereprone
• side effects - hepatic fibrosis, bone marrow suppression
• Splenectomy
• indications for splenectomy - 
• hypersplenism
• annual blood requirement >300ml/kg/year
• spleen palpabel >6 cm from the left costal margin
• Give pneumococcal vaccine 2 weeks before splenectomy
• Also vaccinate against meningococcus and Hemophilus inflenza
• After splenectomy, child is given life long penicillin prophylaxis
• Avoid overcrowded places.
• Record height and weight of the patient 3 monthly
• Measure Ca levels, phosphorus levels, blood sugar levels and thyroid and liver functions 6 monthly.
• Evaluate the growth, development, and iron balance yearly.
• Provide psychological support.

Possible Questions that could be Asked During Long Case Discussion

1. Do you think the child is adequately transfused? If not why?
2. Do you think the child is having iron overload? Why?
3. Is the child is grown adequately?
4. What are the reasons for growth retardation in this child? It is multifactorial. Hypogonadism, frequent hospital admission, chronic anemia, depression can cause growth retardation.
5. What is the reason for cardiomegally in this child? What is the mechanism of cardiomegally in this child?
6. Does the child requires splenectomy?
7. Can you delay splenectomy?
8. What are the aspects you should consider if you are going to remove the spleen of this child?