# A Sample-to-Answer Point-of-Care Diagnostic for Recently Transfused Sickle Cell Anemia Patients in Low Resource Settings

> **NIH NIH R01** · RICE UNIVERSITY · 2024 · $603,735

## Abstract

Project Summary/Abstract
Sickle cell disease (SCD) is an inherited hemoglobin disorder that is highly prevalent in low- and middle-income
countries (LMICs), with over 75% of affected global births occurring in sub-Saharan Africa. Early diagnosis
through pediatric screening, parental education, and preventive treatments are known to reduce deaths;
however, lack of infrastructure and the high cost of diagnostic tools in low-resource settings severely limit early
detection. As a result, many pediatric SCD patients present to a hospital with acute, severe anemia without a
diagnosis and receive emergency blood transfusions. Existing point-of-care tests function by detecting and
characterizing the hemoglobin proteins present in a sample. In cases of blood transfusion, these tests detect
normal hemoglobin transfused from the blood donor as well as sickle hemoglobin, therefore misdiagnosing
patients as sickle cell carriers. This limitation means existing point-of-care tests cannot be used for up to three
months with patients who have received a blood transfusion, which causes significant delays in the time to
diagnosis and prevents initiation of treatment. There is an urgent need for an inexpensive, easy-to-use test that
targets the genetic basis of the disease and can rapidly deliver results so that accurate treatment can be initiated
immediately at the point of care.
To address this need, we will develop a rapid, inexpensive nucleic acid-based test to detect the common point
mutations in the β globin gene that cause SCD: βS(Glu6Val) and βC(Glu6Lys). We propose a test that can
differentiate the following clinically relevant genotypes: 1) SCD patients (βSβS: SS, βSβC: SC); 2) unaffected
individuals (βAβA: AA); 3) SCD carriers (βAβS: AS, βAβC: AC); and 4) Hemoglobin C disease (βCβC: CC). Because
blood transfusions contain globin proteins from the donor, a nucleic acid test is the only possibility to test infants
and children who have recently undergone blood transfusions. An inexpensive point-of-care test that allows rapid
detection of SCD in all patients would greatly improve care for children with SCD.
We aim to: (1) Design and validate the first genetic point-of-care nucleic acid amplification test for sickle cell
disease that can be used in recently transfused patients; (2) Implement the test on a low-cost, manufacturable,
fully integrated sample-to-answer platform; and (3) Evaluate sensitivity, specificity, and usability of the test in two
pilot clinical studies.
Our team at Rice University, Baylor College of Medicine, and Kamuzu Central Hospital in Lilongwe, Malawi has
the necessary expertise in bioengineering and clinical diagnostics to address the challenge of diagnosing SCD
in resource-limited settings. Our proposed assay meets the optimal requirements for point-of-care testing in
LMICs. Finally, it would eliminate the long delays currently associated with sample transport or transfusion from
screen-positive patients to testing centers, and would...

## Key facts

- **NIH application ID:** 10851985
- **Project number:** 5R01HL166413-02
- **Recipient organization:** RICE UNIVERSITY
- **Principal Investigator:** Rebecca R. Richards-Kortum
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $603,735
- **Award type:** 5
- **Project period:** 2023-06-01 → 2027-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10851985

## Citation

> US National Institutes of Health, RePORTER application 10851985, A Sample-to-Answer Point-of-Care Diagnostic for Recently Transfused Sickle Cell Anemia Patients in Low Resource Settings (5R01HL166413-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10851985. Licensed CC0.

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