Thalassaemia

 

 

        

          HISTORY

 

Introduction

 

Zhiming is a 18-year old Chinese young man with no past history of headaches presenting with a 1-week duration of generalized on-off headaches.

 

 

 

The headache is of a recent onset. Not likely to be due to a chronic condition such as migraine.

History of presenting complaint

 

The headache occurs 4 � 6 times in a day and usually lasts 5 � 10 minutes. They do not occur during sleep.

 

It is not relieved or aggravated by any other factors.

 

 

 

It is associated with palpitations and increased lethargy. There is no chest pain or shortness of breath.

 

There are no associated symptoms of nausea, vomiting or visual blurring.

 

 

There is no history of trauma.

 

There is no past history of headaches migraines or CNS pathologies such as hydrocephalus or brain tumors. This is the first occurrence.

 

Zhiming appears disinterested and distraught at times during the interview.

 

 

Headache occurs daily and began a week ago. Suggestive stress-related headache.

 

Unlikely to be migraine which can be precipitated by various factors such as anxiety, fatigue, stress and exercise and is usually relieved by sleep.

 

Suggests a possible CVS etiology causing the headache, e.g. hypertension.

 

Unlikely to be due to migraine or raised intracranial pressure.

 

 

Excludes trauma as a cause.

 

Unlikely to be due to an underlying CNS pathology.

 

 

 

Suggests a psychogenic basis for the headache. Patient may be stressed by recent events in family or school.

 

Past medical history

 

Zhiming has a past medical history of Thalaessemia major now on follow-up at KKH. He is recently diagnosed to have associated cardiomyopathy due to iron overload.

 

Zhiming was diagnosed to have Thalassaemia major when he was 3 years old at KKH. His condition was diagnosed during a routine check-up from the blood tests.

 

He started blood transfusions at 4 years of age. He had transfusions once in 4 weeks which is about 12 times a year. He started desferrioxamine at the same time. He administers himself subcutaneous injections of desferrioxamine 5 times a week at night before he sleeps.

 

He was hospitalized a few times in the past for chest infections besides the monthly blood transfusions. He has no previous surgery.

 

He is currently on folate, vitamin C and E and digoxin for his cardiomyopathy.

 

 

 

This explains his chest palpitations, but evidence of cause of his headaches is obscure and is more suggestive of a psychological problem.

 

 

 

 

 

 

 

 

Patient is a chronic case of Thalassemia major; may have medical problems and complications associated with the condition and the treatment. It is also important to assess how the patient has been coping in the past and now.

 

 

No splenectomy was done.

 

 

 

 

Cardiomyopathy may give rise to supraventricular tachycardia causing the palpitations and requiring the use of digoxin to suppress them. Apparently, the present dose of digoxin may not be sufficient. Digoxin itself may be the cause of his headaches.

 

Family and social history

 

Zhiming is now a secondary four student at Braddell Heights Secondary School.

 

 

He has one younger sister. She does not have thalassaemia major or any blood disorders.

 

Both his parents (non-consanguinous) do not have thalassaemia or any blood disorders in need of regular transfusions. They are financially stable. He does not know whether they have received any genetic counseling.

 

Zhiming is reluctant to reveal more about his family or himself.

 

 

 

Based on his age, Zhiming should have graduated from secondary school. He may have some learning difficulties in school.

 

 

 

 

 

Zhiming�s parents may be carriers for thalassaemia. They should

 

 

 

 

          CLINICAL EXAMINATION

 

General inspection

 

Zhiming is conscious, comfortable at rest and able to respond to speech in simple short sentences. He appeared lethargic, disinterested in the conversation and distraught at times.

 

 

 

He appears pale but not jaundiced. There is bronzing of the skin.

 

 

 

Patient�s condition is stable. He does not have any signs of cardiac failure and is not toxic. He may be too tired or having some underlying emotional problems. Based on his affect, he appeared to be suffering from depression.

 

Patient is anaemic and has pigmentation of the skin due to iron deposition which is expected in him after so many years of thalassaemia and multiple blood transfusions.

 

Parameters

 

Height: 155 cm. (< 3%)

Weight: 44 kg. (< 3%)

 

 

 

Patient�s growth is retarded due to thalassaemia.

 

Vital signs

 

Respiratory rate: 20 bpm

Heart rate: 80 bpm

Temperature: 36.7C

Blood pressure: 90 / 60 mmHg.

 

 

 

His vital signs are stable.

Facial features

 

He has the following thalassaemic facies:

 

�        Mild frontal bossing.

�        Flattened nasal bridge.

�        Maxillary hyperplasia.

�        Prognathia.

�        Prominent upper teeth.

�        Dental malocclusion.

 

 

 

There is evidence of bone marrow hyperplasia and this may be due to late diagnosis or insufficient suppression by blood transfusions.

Hands

 

There is nail-bed and palmar crease pallor.

 

The pulse is fast and irregular with ectopic beats.

 

 

 

Confirms the presence of anaemia.

 

 

May be due to SVT secondary to cardiomyopathy.

Head and neck

 

There is subjunctival pallor and mild scleral icterus. There is no eyeball bruit. There is no goitre.

 

 

Exclude possible complication of hypothyroidism secondary to haemosiderosis.

 

Abdomen

 

The abdomen is soft, non-tender and not distended. There are no splenectomy scars. There are multiple injection sites for desferrioxamine.

 

The liver is palpable 5cm below the right costal margin. The spleen is palpable 3cm below the left costal margin.

 

 

 

Confirm patient�s history that splenectomy was not done.

 

 

 

Hepatosplenomegaly is present.

Tanner staging

 

Genitals: testes < 4ml (Stage 3).

Pubic hair: few, fine hairs (Stage 2).

Axillary hair: hair is scanty (Stage 2).

 

 

At his age, Zhiming should have attained Stage 5 for all the genitalia features and secondary sexual characteristics. He is pubertally delayed possibly due to haemosiderosis of the gonads and pituitary gland secondary to thalassaemia major.

 

Chest

 

The apex beat is situated in the 6th intercostal space, 1cm medial to the mid-clavicular line.

 

No thrills, heaves or P2 are palpable.

 

Heart sounds 1 and 2 are heard. There are no S3 or other additional heart sounds. No murmurs are heard.

 

 

 

The apex beat is displaced inferiorly. There is cardiomegaly secondary to cardiomyopathy.

 

 

 

Clinically, there are no signs of cardiac failure or other heart abnormalities.

Lower limb

 

There are no leg ulcers or bony tenderness.

 

There is no delayed ankle jerk relaxation.

 

There is no kyphoscoliosis or tenderness on examination of the back.

 

 

 

 

 

 

Exclude hypothyroidism as a complication.

 

Exclude skeletal complications.

Neurological

 

There is no visual impairment or hearing loss.

 

Chvostek�s sign is not elicited on tapping of the facial muscles. 

 

 

 

Complications of desferroxamine therapy are not present.

 

Hypoparathyroidism as a complication is not present.

 

 

SUMMARY

 

Zhiming is a 18-year-old Chinese young man with a past history of Thalassaemia major, now presenting with a 1-week-duration of on-off headaches, lethargy and palpitations possibly associated with cardiomyopathy, digoxin therapy or stress.

 

Clinical examination reveals features of thalassaemia such as bronzing of skin, thalassaemic features, nail-bed and subconjunctival pallor and hepatosplenomegaly complicated by short stature, cardiomyopathy and delayed puberty.

 

Clinical diagnosis: Thalassaemia major with associated cardiomyopathy.

 

 

INVESTIGATIONS

 

The aim of the following investigations is to assess:

 

�        the severity of anaemia.

�        the severity of cardiomyopathy.

�        other complications.

 

Investigations

Indications

Full blood count

Hb: assess severity of anaemia.

TW: for infection.

U&E

Calcium and phosphate levels for hypoparathyroidism.

Chest X-ray

Size of the heart and degree of cardiomegaly.

ECG

Cardiac status: define type of arrhythmias and signs of cardiac failure.

Serum glucose

To detect possible hyperglycaemia suggestive of development of diabetes mellitus.

 

 

 

 

 

 

 

 

 

 

 

MANAGEMENT

 

Blood transfusion in cardiomyopathy

 

As Zhiming now develops cardiomyopathy, changes have to be made to his usual blood transfusion regime to prevent overloading the heart and worsening cardiac failure.

 

The following is recommended for him:

 

�        Use fresh blood.

�        Do not transfuse more than 5 ml/kg of blood at one session.

�        Do not transfuse faster than 2 ml/kg, maximum of 4 hours.

�        Frusemide 1 � 2 mg/kg to prevent fluid overload.

 

Follow-up

 

Zhiming should be assessed regularly to detect any worsening of his condition and arising of new complications.

 

Every

Assessment

3 months

�        Height and weight.

6 months

�        Serum ferritin.

�        Calcium and phosphate levels.

�        Liver function test.

�        Urea & electrolytes.

�        Thyroid function test.

Year

�        Evaluate growth and development.

�        Calculate the transfusion indices.

�        Evaluate the iron balance.

�        Desferrioxamine toxicity.

�        Cardiac assessment with a gated blood pool scan to assess left ventricular ejection fraction.

 

 

Psychological assessment

 

Though the severity of the medical problems warrant the full attention of the physician, the patient�s psychological and social well-being must not be neglected either. Particular attention needs to be paid to possible emotional problems and derangements so that patient can be properly counseled and helped for. One must bear in mind thalassaemia is a chronic condition affecting childhood and adolescence, two important periods in the patient�s life with marked changes to their personalities and outlook of life and it requires proper long-term management involving the patient, his family and school.

 

Zhiming appeared to have some emotional problems which he refused to divulge to him. Before leaving, I noticed there were tears streaming down from his eyes. I would like to have a good talk with him at a later date to find out the cause of his problems. I would ask the following:

 

Personal

 

�        What did he feel about his state of health?

�        Is he able to cope with the management of his condition?

�        Is he affected by his short stature, delayed puberty, etc?

�        Is he worried about his future?

�        What are his concerns, fears and expectations of his condition?

 

Family

 

�        How is his relationship with his parents and siblings?

�        Are there any recent events in his family, e.g. move house, birth, death?

�        Are there any financial problems?

�        Are there any conflicts or estrangement?

 

Social

 

�        How is he coping with his school work?

�        Who does he usually hang out with?

�        How is his relationship with his groups of friends?

�        What does he like to do in his leisurely time?

�        What are his future aspirations in society?

 

 

CONCLUSION

 

Thalassemia major is a chronic condition with significant morbidity and mortality that has a major impact on a patient�s childhood and adolescent years. Medical management of the patient should be focused on ensuring patient lives a normal unrestrictive life free of hassles as much as possible, enhancing the quality of life with proper management of anaemia through blood transfusions and prevention and delay of arising of complications and long-term regular follow-ups to monitor the patient�s condition. Management should be holistic in approach treating not only the disease, but also addressing the patient�s emotional and social well-being and involving the patient, family and school in managing the disease.

 

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