|
Indian Pediatr 2011;48: 154-155 |
|
Neonatal Screening for Hemoglobinopathies |
Madhura Bose, Rajlakshmi Viswanathan,
Sudipta Dasgupta and Arun K Singh
Department of Neonatology, IPGME&R-SSKM Hospital, Kolkata
700 020, India.
Email: [email protected]
|
A pilot study was undertaken to develop a feasible neonatal screening
strategy for hemoglobinopathies. Isoelectric focusing using dried blood
spots samples as a primary screening technique was standardized for the
first time in India. The screened positives were confirmed by high
performance liquid chromatography followed by parental screening,
confirmation, and education.
Key words: Hemoglobinopathy, India, Isoelectric focusing,
Neonatal screening, Prevention.
|
Hemoglobinopathies cause high degree of
morbidity and mortality in India [1], there is an urgent need to detect
the disorders as soon as possible after birth. We conducted a pilot study
aiming to develop a feasible neonatal screening strategy. Following
informed consent from parents, dried blood spot (DBS) samples were
collected from 207 inborn babies within day 3-7 of life, over a period of
two months. Primary screening by isoelectric focusing (IEF) (Perkin Elmer,
Finland) [2] was done within 7 days of sample collection. Results were
interpreted using ISOSCAN software (Perkin Elmer, Finland). The screened
positive babies were recalled for confirmation by high-performance liquid
chromatography (HPLC) (Biorad Laboratories) using anticoagulated blood at
a reference laboratory. Parents of the positive babies were also screened
and confirmed. Complete hemogram of the recalled babies and parents was
performed. Repeat screening by IEF as well as HPLC of 20 screen negative
babies were performed to check whether the technique of IEF gives false
negatives or not.
Among four babies positive for hemoglobinopathies,
three had Hb E trait and one had HbE disease. All were term babies and
clinically asymptomatic, with average hemoglobin concentration 9.6 g/dL.
All the mothers of Hb E trait babies were carriers of Hb E. The father of
the baby with Hb E disease was a carrier while the mother was affected
with Hb E disease. After counselling the parents, the babies were referred
to our outpatient department for further management and follow up.
We tried to develop a feasible screening program in our
institute, which could subsequently be adapted in all parts of the
country. The use of DBS samples ensures that samples might be easily
transported without any special facilities with low probability of
transmitting blood borne pathogens [4,5]. The results of repeat IEF and
HPLC using anticoagulated blood matched with that of IEF results performed
by DBS samples, thereby proving the stability of hemoglobin in DBS.
Moreover, the results of the repeat testing of the screen negative babies
matched with the first screening result of IEF and that of HPLC. IEF along
with the ISOSCAN software was standardized for the first time in India,
since it is a reliable [6] and cost effective screening
tool. In the study, IEF results matched with the HPLC results, the gold
standard method widely used in India for detecting hemoglobinopathies. IEF
was able to differentiate between the heterozygote and homozygote cases.
One limitation of the technique in common with HPLC is the inability to
identify beta thalassemia traits in neonates. For this, babies need to be
screened at the age of six months or more when the switching of Hb F to Hb
A is usually complete.
We conclude that implementation of a neonatal screening
program for hemoglobinopathies is feasible in India.
Acknowledgments: NRS Medical College & Hospital,
Kolkata for providing HPLC free of cost and Mr Fred Meindl (Perkin Elmer
Health Sciences, Mexico) for training and interpretations of IEF results
in neonates.
Contributors: MB and RV conducted the experiments
and prepared the initial draft of the paper. SD and AKS helped with the
patient information and approved the final draft of the paper.
Funding: None.
Competing interests: None stated.
References
1. Kapoor S, Kabra M. Newborn screening in India:
Current perspectives. Indian Pediatr. 2010;47:219-24.
2. Galacteros F, Kleman K, Caburi-Martin J, Beuzard Y,
Rosa J, Lubin B. Cord blood screening for hemoglobin abnormalities by thin
layer isoelectric focusing. Blood. 1980;56:1068-71.
3. Gulbis B, Cotton F, Ferster A, Ketelslegers O,
Dresse MF, Ronge-Collard E, et al. Neonatal hemoglobinopathy
screening in Belgium. J Clin Pathol. 2008;62:49-52.
4. Ad Hoc Newborn Screening Committee, National Sickle
Cell Disease Advisory Committee. Newborn Screening for Hemoglobinopathies:
Program Development Laboratory Methods. Bethesda, MD: Sickle Cell Disease
Branch, National Institutes of Health; 1990.
5. Fairbanks VP, Klee GG. Biochemical aspects of
hematology. In: Tietz NW, editor. Textbook of Clinical Chemistry.
Philadelphia: WB Saunders. 1986. p. 1542-8.
6. Paixao MC, Ferraz MHC, Januario JN, Viana MB, Viana
MB, Lima JM. Reliability of Isoelectric focusing for the detection of Hb
S, Hb C, and Hb D in a pioneering population-based program of newborn
screening in Brazil. Hemoglobin. 2001;25:297-303
|
|
|
|