THE NATURE OF SICKLE CELL DISEASE IN BAHRAIN
SHAIKHA SALIM AL-ARRYAED, 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 لملئه 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 الأول هي التعرض للبرد والحمى والانتانات والإرهاق. وكانت الحمى والألم هي من اكثر الأعراض وضوحاً. ويعتقد 70% من هؤلاء المرضى أن المشورة في هذه الحالات أساسية جداً. أما القسم الثاني فقد كانت الأعراض 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 patients 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. From the 2nd study the main signs were enaemia 92%, abdominal pain, hepatomegly 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 courses so variable that some die in early childhood whereas others have a virtually unrecognized condition even at the age of 50 years. 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 haemoglobine (HbF) production are well documented modifiers of the sickle cell phenotype. 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. This benign picture results in parts from very high levels of fetal Hb In the community and also form a high prevalence of alpha thalasseamia. 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 genes. 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 haematologically similar to the African cariety.
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 ages 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 it 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 Salmanyia 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.
PART1 OF STUDY BY SCHOOL QUESTIONNAIRE
Table 1: Common signs and 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 Table4:
Food believed to aggravate or relieves symptoms.
Beans were found to be the most harmful.
Common signs and symptoms in Bahrain SCD patients
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
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.
PART II OF STUDY BY ANALYSIS OF HOSPITAL PATIENTS RECORDS.
Table 6: Common presenting signs and symptoms resulting in hospital admission, fever
Food that are Believed to Relieve Symptoms in SCD Patients
Fluids including Juices, drinks
Food Believed to Aggravate Symptoms in SCD Patients
Type of Food
Beans including Fava beans
Black eye beans
Jaundice and infection and abdominal pain, chest and urinary infection.
Table: Treatment used on admission.
In brief a few conclusions were drawn from the above two sets of results. Data from the study
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 cell
Death in the family due to sickle cell disease
Common presenting Signs and Symptoms in SCD Patients resulting in Hospital Admission
General Information (Not specified)
Was analyzed with reference to various features of S.C.D. First we 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 sever physical activity thirty percent and hot humid weather with closed stuffy and crowded places being ten percent. In the clinical picture fever was mentioned as the main symptom by 69% of responders. Other symptoms mostly associated pain in the hands 60%, pain in the limbs
Treatment used during Admission of SCD Patients
60%, abdominal pain 56% 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 was not documented an explanation for this may be the high incidence of G6PD deficiency in the area. An improvement in the patients condition was noted with increased fluids, fruits, vegetables and milk. Regarding the co-relation of age with the 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 drawn. Data on the frequency of a painful crisis gave figures stating 19% once a week, 48% once a month and 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 patients for qualified advice was clearly indicted 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 files in hospital records, data was gathered. It showed a very high incidence of anaemia 92.9%, fever 85.7%, abdominal pain 71%, hepatomegaly and jaundice 64% and joint pains 62% patients during crisis. Urinary tract infections were much less common at 31%. 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 form S.C.D. have an increased susceptibility to bacterial infections due to a high rate in morbidity and mortality. The prevalence, site of infection and susceptibility to various organisms varies in different age groups. Thirty percent of the hospital study group had urinary tract infection and susceptibility to various organisms various in different age group had urinary tract infection and rental problems. Several pathological changes in the renal medulla leading to secretion of dilute urine can cause an enhanced rate of urinary infection and consequent increased risk of pyelonephritis. 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.
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 assists early diagnosis. This would lead to prompt treatment, which is important in prevent a fulminating course of various infections in SCD. Vaccination for Pneumococcus and H influenza, and antibiotic prophylaxis should be routinely adopted 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 of SCD reducing the often unnecessary and prolonged suffering faced by these patients.