THE NATURE OF SICKLE CELL DISEASE IN BAHRAIN
Shaikha Salim Al - Arrayed, MBCHB, DHCG, PhD.
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.
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.
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.
Common signs and symtomps in Bahraini
Pain in hands
Factors Precipitating Crisis in SCD Patients
Exhaustion, Physical Activity
Change in temperature
Closed crowded places
Mental and psychological tension
Vomiting & diarrhea
Traveling by air
Food Believed to Aggravate Symptoms in
Type of Food
Beans including Fava beans
Black eye beans
Food that are Believed to Relieve Symptoms
in SCD patients
Type of Food
Fluids including juices, drink
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.
Course of Disease
Symptoms become worse
Symptoms become better
Do not know
Frequency of Crisis
Once a Month
Once a year
Premarital Counseling is Important
Special sickling clinic
Death in the family due to sickle cell disease
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
- Abdominal pain
- Joint pain
- Limb pain
- Chest pain
- General Infection (Not specified)
- Urinary infection
- Diarrhoea Vomiting
- ENT problems
- Cardiac complications
- Gall stone
- Ophthalmological problems
TABLE 7: Treatment used on admission.
Treatment used during Admission SCD Patients
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.
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.
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