Hematological Diagnosis of Sickle Cell Anemia

Award Information
Agency:
Department of Health and Human Services
Branch
n/a
Amount:
$50,000.00
Award Year:
1993
Program:
SBIR
Phase:
Phase I
Contract:
n/a
Award Id:
22313
Agency Tracking Number:
22313
Solicitation Year:
n/a
Solicitation Topic Code:
n/a
Solicitation Number:
n/a
Small Business Information
2000 N. 14th Street, Arlington, VA, 22201
Hubzone Owned:
N
Minority Owned:
N
Woman Owned:
N
Duns:
n/a
Principal Investigator:
Gerald L. Kropp
(703) 558-3400
Business Contact:
() -
Research Institution:
n/a
Abstract
Sickle cell anemia is an inherited disorder of erythrocytes characterized by chronic anemia, recurrent pain, susceptibility to infections, chronic and recurrent organ dysfunction, and diminished life-expectancy. Even among patients having documented homozygous sickle cell anemia (Hb SS), there exists an astonishing degree of variability in clinical severity. Some die from strokes as young children, others live well into their seventies. Some seek medical attention for pain weekly, others go years without pain. The absolute nature of current therapeutic measures for sickle cell disease (SCD), e. g. termination of pregnancy and bone marrow transplantation (BMT), emphasizes the importance of pretherapeutic predictions of mild and severe disease before the nature of the disease has been declared. In this regard, we propose to use polymerase chain reaction (PCR)-based methods to detect sequence variations that are related to disease severity - alpha-globin genotypes, beta-cluster restriction fragment length polymorphism (RFLP) haplotypes, binding sites for erythroid-specific trans-acting transcription elements, and beta-cluster locus control region (LCR) sequences. PCR-based methods for detecting these sequences will provide the basis for developing a diagnostic kit that will predict whether SCD will be mild or severe. PCR based methods will also guide decisions regarding termination of pregnancy and undertaking BMT.

* information listed above is at the time of submission.

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