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طبيعة فقر الدم المنجلي لدى البحرينيينTHE NATURE OF SICKLE CELL DISEASE IN BAHRAIN

 
 

الزيارات : 85

التاريخ : 27-10-2009

 
 

عن الملف :

المرفقات : لا يوجد

 
 
 

THE NATURE OF SICKLE CELL DISEASE IN BAHRAIN

 

Shaikha Salim Al - Arrayed, MBCHB, DHCG, PhD.

 

 

 

ABSTRACT

 

أجريت هذه الدراسة للتحقق من طبيعة فقر الدم المنجلي لدى البحرينيين. وقد قسمت هذه الدراسة الى قسمين واسعين الأول يعتمد على جماعة ذات تنظيم مشترك حيث وزع استبيان لمثله من قبل 100 طالب مصابين بفقر الدم المنجلي ، أما القسم الثاني فكان يعتمد على مرضى المستشفى حيث تمت مراجعة 70 ملف لمرضى مصابين بفقر الدم المنجلي كانوا قد ادخلوا الى المستشفى . وقد وجدنا أن العوامل الرئيسية المؤدية في القسم الاول هي التعرض للبرد والحمى والانتانات والارهاق . وكانت الحمى والالم هي من اكثر الاعراض وضوحا . ويعتقد 70% من هؤلاء المرضى ان المشورة في هذه الحالات اساسية جدا . أما القسم الثاني فقد كانت الاعراض الرئيسية في 92% من الحالات هي آلام بطنية وضخامة الكبد الصفراوية والتهاب في المجاري البولية.

 

This study was conducted with a view of ascertaining the nature of the sickle cell disease (SCD) in our population. The study was broadly divided into 2 parts-one being community based, where 100 student with Sickle cell disease fill in a questionnaire about the disease. The other part being hospital based, where 70 files of SCD patient admitted to SMC with sickle cell crisis were reviewed.

We found that the main precipitating factor of painful crisis is exposure to cold, fever, infection, and exhaustion. The most common symptoms were pain, fever. Seventy percent of  these patients thought that premarital counseling is essential. Form the 2nd study the main signs were anaemia 92%, abdominal pain, hepatomegaly jaundice, and urinary tract infection.

 

Introduction

 

The variable spectrum of clinical manifestations in sickle cell disease is well established. Different patients with apparently identical molecular abnormality have clinical course so variable that some die in early childhood whereas others have a virtually unrecognized condition even at the age of 50 years 1,2. The marked variability proves that inheritance (haplotypes) is not the only determinant of clinical severity in S.C.D but that expression of the disease must also be influenced by other genetic and environmental features.

 

At least 2 variables namely heterozygosity for an alpha thalassaemia gene, and the level of fetal haemoglobin (HbF) production are well documented modifiers of the sickle cell phenotype3-8. The disease in Saudi Arabia and Bahrain presents special features. S.C.D in this area is haematologically and clinically mild and mortality is low in both children and adults 8-10. This beningn picture results in parts from very high levels of fetal Hb in the community and also from a high prevalence of alpha thalassaemia. However even in this environment clinical variability is apparent with some cases dying from septicaemia and serious morbidity resulting from Salmonella osteomyelitis. In other areas patients with low level of HbF similar to African cases have been recognized. These cases are more common in the western province of Saudi Arabia and may be reflecting an admixture with the African genes9. A similar from of S.C.D with benign clinical and haematological features had also been reported from Iran, Turkey, Israel, Northern Greece and Southern India. South American Brazilian patients and U.K. patients are clinically and haematological similar to the African variety1,11.

Methods and Materials of study

 

The study of S.C.D in Bahrain consisted of two parts.

 

  • 1. a community based questionnaire sent to schools and
  • 2. a hospital study of S.C.D patients files.

 

1-  A hundred Bahrain students between the age of 8-12 years with sickle cell disease completed a questionnaire regarding S.C.D. The format included questions about the most common signs and symptoms, factors precipitating the painful crises and its relation to the food consumed. The effect on schooling and whether there were any deaths in the family from S.C.D. Their opinion on premarital clinics and the specialized sickling clinic was also included in the questionnaire for parents.

 

2-  The second part of the study was based on data collected retrospectively from seventy files of S.C.D Bahraini patients in the age group 15-50 years. These files are selected at random from the record department in Salmainya medical center. This gave us an idea of the severity of the clinical picture requiring hospital admission, the common types of infection, and the treatment given including operations done.

 

 

Results

 

 

The study was done under the following headings in the 2 groups of people affected by S.C.D namely students and hospital patients and shown in tabulated form.

 

Tabulated results of the above study.

 

PART OF STUDY BY SCHOOL QUESTIONNAIRE

 

TABLE 1: Common signs and the symptoms. Pain and fever were found to be the most common

 

TABLE 2: Factors precipitating the crisis cold exposure and fever are the most common cause.

 

TABLE 3: and table 4:

Food believed to aggravate or relieve symptoms. Beans were found to be the most harmful.   

 

 

 

 

 

 

 

 

 

 

Table 1

Common signs and symtomps in Bahraini

SCD patients

(School children)

Symptoms

Percentage

 

Fever

Pain in hands

Limb pain

Abdominal pain

Knee pain

Back pain

Elbow pain

Shoulder pain

Chest pain

Urinary problem

 

69%

59%

58%

56%

55%

54%

40%

39%

36%

18%

 

 

 

 

 

                                               

 

 

 

 

 

 

 

 

 

 

Table 2

Factors Precipitating Crisis in SCD Patients

(School children)

Factors

Percentage

 

Cold

Fever

Exhaustion, Physical Activity

Change in temperature

Hot weather

Closed crowded places

Mental and psychological tension

Vomiting & diarrhea

Traveling by air

 

45%

35%

35%

19%

10%

10%

10%

7%

1%

 

 

                                   

 

                                               

 

 

 

 

 

 

 

 

 

 

 

Table3

Food Believed to Aggravate Symptoms in 

SCD patients

Type of Food

Percentage

 

Beans including Fava beans

Chick beans

peas

Black eye beans

Nuts

 

 

55%

28%

13%

4%

4%

 

                                   

 

                                               

 

 

 

 

 

Table4

Food that are Believed to Relieve Symptoms

in SCD patients

Type of Food

Percentage

 

Fluids including juices, drink

fruits

Vegetables

Milk

Liver

Meat

dates

Rich

yogurt

 

25%

25%

25%

20%

12%

4%

4%

2%

1%

 

 

 

 

 

 

 

 

 

 

 

 

 

TABLE 5: Information on absenteeism in school, frequency of crisis, progress of symptoms and deaths in the family due to S.C.D. Two percent quit school because of the disease.

 

TABLE 5:

 

Schooling

%

 

Regular

 

Not regular

 

Stopped

 

 

29%

 

43%

 

2%

 

Course of Disease

%

 

Symptoms become worse

 

Symptoms become better

 

System Same

 

Do not know

 

 

29%

 

30%

 

28%

 

rest

 

Frequency of Crisis

%

 

Weekly

 

Once a Month

 

Once a year

 

Premarital Counseling is Important

 

Special sickling clinic

 

Death in the family due to sickle cell disease

 

Fully vaccinated

 

19%

 

48%

 

14%

 

70%

 

62%

 

10%

 

76%

TABLE 6: Common presenting signs and symptoms resulting in hospital admission, fever, jaundice and infection and abdominal pain, chest and urinary infection.

 

Common presenting Signs and Symptoms in SCD Patients resulting in Hospital Admission

 

Sign

Percentage

  1. Anaemia
  2. Pallor
  3. Fever
  4. Bodyachs
  5. Headache
  6. Abdominal pain
  7. Jaundice
  8. Hepatomegaly
  9. Joint pain
  10. Limb pain
  11. Chest pain
  12. Backache
  13. Spleenomegaly
  14. General Infection (Not specified)
  15. Urinary infection
  16. Dactylitis
  17. Diarrhoea Vomiting
  18. ENT problems
  19. Cardiac complications
  20. Cholecystitis
  21. Gall stone
  22. Ophthalmological problems
  23. Priapism 

92.9%

90.0%

85.7%

78.6%

77.0%

71.4%

64.3%

46.3%

62.9%

60.0%

58.6%

58.6%

55.7%

45.7%

30.0%

22.9%

20.0%

17.0%

15.7%

14.3%

12.9%

5.7%

0.0%

 

 

TABLE 7: Treatment used on admission.

 

TABLE 7:

 

Treatment used during Admission SCD Patients

 

 

 

Tablets

Injections

Saline

Antibiotic

Blood Transfusion

77.0%

67.0%

75.7%

60.0%

35.7%

 

 

 

 

 

 

 

Discussion

 

In brief a few conclusions were drawn from the above two sets of results. Data from the study was anlaysed with reference to various features of S.C.D. First will review data from the school questionnaire:

 

In forty five percent, the main factor precipitating a crisis was exposure to cold. The other factors were fever or elevated body temperature Thirty five percent, exhaustion and severe physical activity thirty percent and hot humid weather with closed stuffy and crowded places being ten percent12. In the clinical picture fever was mentioned as the main symptom by 69% of responders. Other symptoms mostly associated are pain in the hands 60%, pain in the limbs 60%, abdominal pain 59% and pain in the region of knee 55%. A smaller 36% had chest pain and only 18% had urinary problems. With reference to the co-relation between crisis and ingested food almost 55% mention beans including Fava beans as the precipitating cause. Although this may be the high incidence of G6PD deficiency in the area. An improvement in the patients condition was noted that increase or decrease of symptoms, it was noted that 29% said that the symptoms increased with age, 30% said that these decreased with age and the remaining did not notice any difference. Accordingly, no definite conclusion about aging and its effect on S.C.D. can be drawn4. data on the frequency of a painful crisis gave figures stating 19% once a week, 48% once a month 33% about 1-4 times a year.

 

Based on the above data of frequency and severity of crisis, the figures relating to regularity and absenteeism in school suggest that the two are inter-related as expected. Forty three were irregular due to frequent crisis. Two percent had to discontinue schooling as a result of the severity of S.C.D. Ten percent of the patients had some family member death due to S.C.D. The need of patients for qualified advice was clearly indicated by 70% being in favour of premarital counseling and 62% for specialized sickling clinic.

 

From the second part of the study which depended on retrieval of patient filesin hospital records, data was gathered. It showed a very high incidences of anaemia 92.9%, fever 85.7%, abdominal pain 71%, hepatomegaly and jaundice 64% and joint pains 62% in patients during crisis. Urinary tract infections were much less common at 31%13-15. All types of infections were mentioned especially chest infections, steomyelitis, cholecystitis, renal infection such as pyelonephritis, stomatitis. The most common bacteria implicated in infections was Salmonella, Pneumococcus pneumonia and E.coli. Patients suffering from S.C.D. have an increased susceptibility to bacterial infections due to a defect in the normal immune system. This caused a high rate in morbidity and mortality16. The prevalence, site of infection and susceptibility to various organisms varies in different age groups. Thirty percent of the hospital study group and urinary tract infection and renal problems. Several pathological changes in the renal medulla leading to concentration variations would be expected in these patients. Scarring of the renal medulla leading to  secretion of dilute urine can cause an enhanced rate of urinary infection and consequent increased risk of pyelonephritis16-18. The usual treatment used include Acetaminophen, Non-steroidal anti inflammatory drug (Brufen, Indocid) Distalgesic orally and injections of Sosegon, Pethidine, Morphine and IV fluids Dextrose 5% alternating with normal saline 19,20.

 

 

Recommendation

 

In Bahrain S.C.D and other red blood cell genetic abnormalities such as thalassaemia and G6PD deficiency have a high prevalence. A few recommendations which would be helpful in tackling the problem of S.C.D are genetic counseling and screening of new born leading to an early diagnosis. Parent education regarding the nature of the disease and signs and symptoms to be reported to the doctor would also assist early diagnosis. This would lead to prompt treatment which is important in preventing a fulminating course of various infections in SCD. Vaccination for Pneumococcus and H influenza, and influenza, and antibiotic prophylaxis should be routinely adopted19,20 Of vital importance is the awareness of clinicians treating sickle cell disease patients of current management protocols of complications like painful crisis, infections, aseptic necrosis of bones and transfusion therapy problems. Special sickle cell disease clinics in areas like Bahrain with a very high incidence of sickle cell disease would give immediate and expert management and prolonged suffering faced by these patients18-20.

 

 

References

 

  1. Serjeant GR. The Haematology of steady state homozoygous sickle cell disease. Frequency distributions, variation with age and sex, longitudinal observations. Brit J Haemat. 1985;59:369-382.
  2. El-Hazmi MAF, Jabbar AF,Al-Faleh FZ. The Haematological, biochemical and clinical presentation of Haemoglobin biochemical and clinical presentation of Haemoglobin in Saudi Arabia(1) Haematological, biochemical and clinical expression. Trop. Geogr Med 1987;39:157-162.
  3. Gelpi AP. Sickle cell disease in Saudi Arabia. Acta Haemat. 1979;15:307.
  4. Gelpi AP. Benign sickle cell disease in Saudi Arabia. Survival estimates and population dynamics. Clin Genet 1979;15:307.
  5. Pembrey ME, Wood WG, Weatherall DJ, et al. Foetalhaemoglobin production and sickle gene in the oasis of Eastern Saudi Arabia. Brt. J Haemat. 1978;40:415.
  6. Pembrey ME, Perrine RP , Wood WG, et al. Sickle thalassemia in Eastern Suadi Arabia. AM. J Hum Genet 1980;32:26.
  7. El-Hazmi MAF. Clinical manifestation and laboratory findings of sickle cell anaemia in Saudi Arbia. Acta. Haemat 1986;74:155-160.
  8. Higgs DR, Albridge BE, Lamb J, et al. The Interaction of alpha thalassemia and homozygous sickle cell disease. New England J of Med. 1982;306:1441-1446.
  9. Embury SH, Clark MR, Monrory G, et al. concurrent sickle cell anemia and Apha thalassemia. Effect on pathological properties of sickle erythrocytes. J of clinical investigation 1984;73:116-123.
  10. El-Hazmi MAF. Hemoglobin disorders. A pattern thalassaemia and haemoglobinopathies in Arabia. Acta Haemat. 1982;68:43-51.
  11. Powars DR. natural history of sickle cell disease. The first ten years. Semin Haematol. 1975;12:267.
  12. Saha N, Samual APW. Sickle cell gene disease. The first ten years. Semin haemat. 1975;12:267.
  13. Hilkovits G, Jacobson A. hepatic dysfunction and abnormalities of the serum proteins and Serum enzymes in sickle cell anemia J Lab Clin Med 1961;57:856-867.
  14. Topley JM, Rogers DW, Stevens MCG, et al. acute Splenic Sequestration and hypersplenism in the first five years in homozygous sickle cell disease. Arch dis Child 1981;56:765.
  15. Barret Connor E. bacterial infection and Sickle cell anemia Med 1971;56:765.
  16. McCrory WW, Goren N, Cornfield D. Demonstration of impairment of urinary concentration ability or pitressin resistance in children with sickle cell anaemia. Am J Dis Child 1953;86:512-513.
  17. Okoroma EO, Agbo DC. Childhood Osteomyelities. A five year analysis of 118 cases in Nigerian children. Clin paed (USA) 1984,23:548-552.
  18. WHO-Hereditary anaemia. Genetic basis, clinical features, diagnosis, and treatment. Bulletin of the World Health Organization 1982;605:643-660.
  19. WHO- Community control of hereditary anaemia. Memorandum from WHO meeting 1983;611:63-80.
  20. Nadkarni KV, Al-Arrayed SS, Bapat JP. Incidence of Genetic disorders of haemoglobin in the hospital population of Bahrain. Bahrain Medical Bulletin 1991;131:19-24.   

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 
     
 

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الصفحات :1-2-3-4