Update

Hemoglobinopathy Issues and Answers Conference

CHORI – May 25, 2010

Brad Therrell, PhD NNSGRC - Austin, Texas

Jelili Ojodu, MPH APHL – Silver Spring, Maryland

SACHDNC – September 16, 2010

Current Status of Newborn Hemoglobinopathy Screening in the

United States

Brad Therrell, Ph.D., Director

National Newborn Screening and Genetics Resource Center

Austin, Texas

May 25, 2010

D.C.

Laboratory Service Delivery Models 2010States Using Contract Screening Laboratories and

Public and/or Commercial/Non-profit

7 Contracted Labs1 Pathology Lab1 Med Ctr Lab1 Commercial Screening Lab2 Contracted LabsShare – Public Health/Med Ctr

OR Public Health Lab

IA Public Health LabCO Public Health LabU Mass LabAllows Commercial Lab Competition

WI Public Health Lab

AZ Public Health Lab

D.C.

Laboratory Service Delivery Models 2010 Hemoglobinopathy Screening

IEF as Primary ScreenIEF as Part of Primary ScreenIEF not used as Part of Primary Screen

D.C.

Laboratory Service Delivery Models 2010 Hemoglobinopathy Screening

IEF as Primary ScreenIEF and HPLC as Primary ScreenHPLC as Primary Screen

D.C.

Laboratory Service Delivery Models 2010 Hemoglobinopathy Screening

HPLC Not AvailableIEF and HPLC on All NewbornsHPLC Available – First or Second Tier Screen

D.C.

Laboratory Service Delivery Models 2010Hemoglobinopathy Screening

DNA Available as Second TierDNA Available to Some Infants as Second TierDNA Not Commonly Used as Second Tier Screen

D.C.

U.S. History of Hemoglobinopathy Screening

April 1, 1975

Universal Newborn Hemoglobinopathy Screening MandatedNewborn Hemoglobinopathy Not Universally Mandated

Benson and Therrell. Semin Perinatol 34:134-144 (2010).

D.C.

U.S. History of Hemoglobinopathy Screening

By January 1, 1995

Universal Newborn Hemoglobinopathy Screening MandatedNewborn Hemoglobinopathy Not Universally Mandated

Benson and Therrell. Semin Perinatol 34:134-144 (2010).

D.C.

U.S. History of Hemoglobinopathy Screening

By January 1, 2005

Universal Newborn Hemoglobinopathy Screening MandatedNewborn Hemoglobinopathy Not Universally Mandated

Benson and Therrell. Semin Perinatol 34:134-144 (2010).

D.C.

U.S. History of Hemoglobinopathy Screening

By May 1, 2006 All 51 Programs

Universal Newborn Hemoglobinopathy Screening MandatedNewborn Hemoglobinopathy Not Universally Mandated

Benson and Therrell. Semin Perinatol 34:134-144 (2010).

http://genes-r-us.uthscsa.edu