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Neonatal Screening for Genetic Blood Diseases

 
 

Date   :  26-10-2009

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Attachments : neonatal_screening[1].pdf

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Bahrain Medical Bulletin, Vol. 29, No. 3, September 2007

Neonatal Screening for Genetic Blood Diseases
ShaikhaAl-Arayyed, PhD* AAziz Hamza, MD** Bema Sultan***
D. K. Shome, MRCPath**** J. P. Bapat, PhD****

Background: Previous neonatal screening in 1986 showed that the incidence of sickle cell disease (SCD) is 2.1% and (SCT) is 11%. Since 1984 the Ministry of Health (MOH) instituted a prevention campaign. The incidence has been falling gradually since then.

Objective: To update the national data on the incidence of SCD among the newborns and to compare it with the previously available data.

Method: All Bahraini newborns delivered at the (MOH) maternity hospitals for a period of three months from February to April 2002 were targeted. Cord blood samples were analyzed by HPLC.

Result: Two thousand newborns constituted the study population, five were excluded. Eighteen were found to be affected with SCD with an incidence of 0.9%. SCT was found in 325(16.3%). G6PD deficiency was found in 18% of males and 10% of females. Parental age distribution and consanguinity were documented.

Conclusion: Bahrain has for the first time recorded less than 1% babies with SCD.
Bahrajn Med Bull 2007; 29(3): 88- 90

Sickle cell disease and thalassemia are common in many parts of the world especially in tropical Africa, the Middle East, the Mediterranean basin, the Indian subcontinent and South America. Experimental evidence and Epidemiological studies support the argument that the heterozygote state of hemoglobinopathies may provide some protection against Malaria.
Many studies indicate that these diseases are common in the Gulf region, in Saudi Arabia, Bahrain, Kuwait, United Arab
Emirates, Oman and Qatar. These diseases are also common in the other Arab countries such as Egypt, Iraq, Syria, Jordan,
Palestine, and Lebanon etc5.

The diseases are chronic and the affected person suffers from anemia and ill health all through his life. Preventive measures remain the best way of reducing the incidence of the diseases12. In Bahrain, a previous neonatal screening done between the years 1984-1986 showed that the incidence of sickle cell disease (SCD) is 2.l°o, sickle cell thalassemia (SCT) is 11%, alpha thalassemia trait 20°o and Glucose six phosphate deficiency 25° o of live births78.

In contrast to the premarital study done in 1995, which showed a prevalence of 1 .6%. The prevalence figure was also lower in the student-screening project conducted in 1999, as the prevalence of SCD homozygous was found to be 1.2% 10
This may indicate a gradual decline in disease frequency, which may be due to the effect of increased awareness among the people of Bahrain, as a result of the educational and awareness campaign which was started some twenty years ago.
The aim of this study is to update the national data on the incidence of SCD among the newborns and to compare it with the previously available data.

METHOD
The study was performed between February 1 and April 30, 2002.
The target group included 2000 Bahraini newborn delivered in the Ministry of Health maternity hospitals. Cord blood samples were collected in tubes containing EDTA, and transferred to the Hematology Laboratory at Salmaniya Medical Complex for analysis.

Genetic Department
** Under Secretary
‘°°" Nursing Department
Pathology Department
Salmaniya Medical Centre
Kingdom of Bahrain

This study is a collaborative project between the
Ministry of Health, the World Health
Organization, and the Bahrain Hereditary
Anemia Society. The national Hereditary
Disease Committee had organized and directed
the project.

 

High performance liquid chromatography was used to perform electrophoresis on the cord blood samples, with a fluorescent screening technique for G6PD deficiency.
A questionnaire was completed for each new born. The form included characteristic data, parental age group, and consanguinity and was coded for computerization. Senior personnel in each field undertook the requisite training of involved doctors, nurses and technicians. A confirmatory test was conducted on all the newborns with abnormal results.

RESULT

The total number of samples analyzed was 1995; five of the samples were excluded because the blood had clotted. Male to female ratio among the sample group was 1.1/1 with slight excess of males. The paternal age distribution shows that the majority of the fathers were aged between 25-44 years (87%), and 29% were 30-39 age group.

Maternal age distribution shows a lower figure, with most women having children between the ages of 20-39 (82%); the majority of these were between the ages of 25-34 years (57%)

Consanguinity rate: marriages between relatives was found to be 20% (242/1197), with first cousin marriages of 12.5% (150/1187) and 7% (92/1187) for marriages between distant relatives.

Only 0.9% (18/1995) of Bahraini neonates, born in Ministry of Health facilities had Sickle cell disease SCD, while sickle cell trait was found in 16.3% (325/1995) of the newborns, see table I. Glucose 6 phosphate dehydrogenase deficiency, which represented 28% of the total, was found in l0°o of the male newborns, and 18% of the female newborns.

DISCUSSION
The male to female ratio among the samples was 1 .1 / 1 with a slight excess of males.

The paternal age distribution showed that the majority have children at 20-54 years; the maternal age distribution of the mother is lower, majority between 20-29 years.

Consanguinity rate: marriages between relatives was found to be 20% (242/1197), with first cousin marriages of 12.5% (150 1187) and 7% (92/1187) for marriages between distant relatives. The previous figure in the year 1995 was 39°c consanguinity and 24°c first cousin marriage In the year 1998 the figure was 32's consanguinity and 24% for first cousin marriage'2. Accordingly there is a gradual decline in the rate of marriages between relatives.

The study showed that only 18 of the 1995 newborn (0.9%) were affected with SCD. The 0.9% SCD birth prevalence in 2002 compared with the previous estimate of 2.1°, reported in 1984-85, indicates a decline by almost 60% (p 0.001).
The sickle cell trait prevalence of 16.3% in 2002 compared with previous estimates of 11% in 1986 (p = 0.001) (table 2), 13% in student screening during 1998, and 14%in 2001 demonstrates an increasing trend.

As shown from table I, the incidence of SCD was higher in the parents than their children. The trait rate showed the opposite trend, which has been expected as more carriers (HbA/HhS) marry normal persons with HbA/HbA.
There was a significant reduction in the birth prevalence of SCD between 1986 and 2002 (p 0.001). Similarly, there was a significant increase in the frequency of carriers during that time (p - 0.001), see table 2.

 

 

 

 

Table 1: Sickle Cell Disease & Sickle Cell Trait Frequency among New Born. Mothers and fathers, 2002

 

Status

Child

Mother

Father

No

%

No

%

No

%

Normal

1652

82.81°s

1024

84.63%

234

90%

Carrier

325

16.29%

170

14.05%

21

8.08%

Disease

18

0.9%

16

1.32%

5

1.92%

Total No.

1995

1210

260

 

Table 2: Comparison of the prevalence of SCD and SC carriers frequency in 1986 and 2002

Year

No
Screened

No Affected

.
No Carriers

1986

10,327

217(2.1%)
1 .8
à2.4)

1,135(11%)
(interval analysis 1.04% 11.6)

2002

2,000

18
(interval analysis
14. 7
à18 .0)

1.326
(interval analysis 0.5% 1.42)

p

 

0.001

0.001

 

 

A previous molecular study showed that approximately 90% of patients had the mild form of sickle cell diseas17. DNA analysis has proved the presence of the Asian as the common haplotype317. This mutation is associated with high level of HbF, a situation similar to that in the Eastern Province of Saudi Arabia. In contrast to the common gene found in Oman and western province of Saudi Arabia where the severe type of the disease predominate and the common haplotype is the Benin haplotyp18.19.
G6PD deficiency of 18%, in male and 10% in female newborns, the total is 28%, compared favourably with almost 25% in many previous studies.

The Lyon hypothesis indicates that female heterozygotes have one normal gene for G6PD, and one of the X is active. If the active X has the defective gene, the disease will manifest itself. Patients with this disease have little clinical implication. Few cases are admitted with heniolytic crisis although fava meal is one of traditional food recipes. G6PD deficient patients have also higher rate of neonatal jaundice. The molecular studies on G6PD deficient patient showed that 95% of patients had G6PD Mediterranean variant (nt 563 C-T; 188 Ser-Phe)20'2.

CONCLUSION
This study shows that SCD incidence is less than 1% among the study group compared with previous studies in Bahrain.

REFERENCES
1. Hereditary anaemias: genetic basis, clinical features, diagnosis, and treatment. WHO working group. Bull World Health Organ. 1982; 60:643-60.
2. Community control of hereditary anaemias: memorandum from a WHO meeting. Bull World Health Organ. 1983; 61:63-80.
3. Angastiniotis M, Kyriakidou S, Hadjiminas M. The Cyprus Thalassemia Control Program. Birth Defects: Original Articles Series 1988; 23:417-32.
4. Pembrey ME, Perrine RP, Wood WG, et al. Sickle thalassemia in Eastern Saudi Arabia. AM.J Hum Genet 1980; 32:26.
5. Gelpi AP. Sickle cell disease in Saudi Arabs. Acta Haematol.
1970; 43:89-99.

6. Bahrain Health Statistic Reports, 1985-2005 pllyrww. nioh.gov.bhJPDF[Leafiets/Abstractlleaflet%202005 .pdf
7. Nadkarni Ky, Al-Arrayed SS, Bapat JP. Incidence of Genetic disorders of haemoglobin in the hospital population of Bahrain. Bahrain Medical Bulletin 1991; 131:19-24.
8. Mohammed A, Al-Huh F, Nadkarni K, et al. Hemoglobinopathies and Glucose-6-Phosphate Dehydrogenase Deficiency in Hospital Birth in Bahrain. Annals of Saudi Medicine 1992; 12:536-9.
9. AlArrayed SS. Premarital counseling. Eastern Mediterranean Health Journal 1997; 3:415-9.
10. Al-Arrayed SS, Hafadh N. Amin S, et al. Student screening for inherited blood disorders in Babrain. East Mediterr Health J 2003; 9:344-5 1.
11. Al-Arrayed SS. The frequency of consanguineous marriages inthe State of Bahrain. Bahrain Med Bull 1995; 17:63-6.
12. Babrain National family Health Survey, BFHS 95, 1995 Bahrain.
13. Al-Arrayed SS, Neva H. Features of sickle-cell disease in Babrain. East Mediterranean health journal 1995; 1:112-9.
14. Al-Arrayed S. The Nature of sickle-cell disease in Bahrain. Journal of the Bahrain Medical Society 1994; 6:125-30.
15. Al Arrayed S, Hamza A. A survey of Patients with sickle cell presentation to accident and emergency department of SMC Bahrain. Journal of Babrain Medical Society 1995; 7:105-12.
16. Al-Arrayed S. Hematological characteristics in Bahraini sickle-cell disease patients. Journal of the Bahrain Medical Society 1991; 2:32-5.
18. Perrine RP, Pembrey ME, John P, et al. Natural history of sickle cell anemia in Saudi Arabs; a study of 270 subjects. AnnintemMed 1978; 8:1-16.
19. El-Hazmi MAF. Hemoglobin disorders.Apatternthalassaemia and haemoglobinopathies in Arabia. Acta Haemat 1982; 68:43-51.
20. Lunzatto L, Nwachuku-Jarrett ES, et al. Increased sickling of parasitized erytbrocytes is mechanism of resistance against malaria in sickle cell trait. Lancet 1970; 1:319-21.
21. Al-Momen NJ, Al-Arrayed SS, Al-Alawi AA. Molecular Homogeneity of G6PD Deficiency. Bahrain Med Bull 2004; 26:139-42.

 

 
     
 

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