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Genetics: Newborn screening for sickle cell anemia

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VOL 55: OCTOBER • OCTOBRE 2009 Canadian Family Physician•Le Médecin de famille canadien

1001

Practice

Dermacase

Can you identify this condition?

Tania Murynka Vimal Prajapati

MD

Benjamin Barankin

MD FRCPC

A

30-year-old man presents with monomor- phic, discrete, smooth, dome-shaped, skin- coloured papules of 1 to 2 mm in length on the corona and sulcus of the glans penis. The lesions are asymptomatic and he thinks that they have increased in number over the past year. His med- ical history is unremarkable and he is not taking any medications. He is sexually active and occa- sionally wears condoms.

The most likely diagnosis is 1. Condyloma acuminata 2. Lichen nitidus

3. Pearly penile papules 4. Ectopic sebaceous glands 5. Molluscum contagiosum

Answer on page 1002

Genetics

Newborn screening for sickle cell anemia

Wendy S. Meschino

MD

Clare A. Gibbons

MS

Judith Allanson

MD

Sean M. Blaine

MD

Carol Cremin

MSc

Heather Dorman

MSc

Christina Honeywell

MSc

Joanne Permaul Brenda J. Wilson

MB ChB

June C. Carroll

MD

E

arly identifi cation of sickle cell anemia (SCA) with newborn screening enables antibiotic prophy- laxis for Streptococcus pneumoniae, which is one of the early life-threatening complications of untreated disease. Identifying newborns with SCA also facili- tates the education of parents and caregivers about early treatment of crises and prevention of compli- cations. Newborn screening might also detect other hemoglobin (Hb) variants in children, including HbC, HbD, and HbE; however, newborn screening does not test reliably for other hemoglobinopathies, such as β-thalassemia or HbH disease. Hemoglobinopathy screening should therefore still be offered to those parents from high-risk ethnic backgrounds, ideally before or early in pregnancy.

Bottom line. In some provinces, newborn screening for SCA is available, facilitating early interventions to prevent complications.

The complete Gene Messenger—Newborn Screening for Sickle Cell Anemia by the GenetiKit research team is available on CFPlus.*Past Gene Messenger articles can be accessed on-line at www.

cfp.ca. On the home page, click on Collections in the left-hand menu, then click on Genetics.

Competing interests None declared

The GenetiKit research team, a group of family physicians, genetic counselors and geneticists, designed the Gene Messenger series to pro- vide practical information to help family physicians and their patients make informed choices about rapidly emerging genetic discoveries.

The series is a collection of up-to-date, defi nitive, short reviews on genetics topics that have made headlines, and offers recommendations regarding referral for genetic services or testing.

Acknowledgment

Funding was provided by the Canadian Institutes of Health Research.

CFPlus

GO

The English translation of this article, is available at www.cfp.ca. Click on CFPlus to the right of the article or abstract.

*The Gene Messenger on newborn screening for sickle cell anemia is available at www.

cfp.ca. Go to the full text of this article on-line, then click on CFPlus in the menu at the top right-hand side of the page.

GENE MESSENGER

For more information on genetics topics, see www.mtsinai.on.ca/FamMedGen/

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