Are genetic approaches still needed to cure sickle cell disease?

Robert A. Brodsky, Michael R. DeBaun

Research output: Contribution to journalReview article

Abstract

Sickle cell disease (SCD) is a heritable disorder of hemoglobin that affects 1 of every 400 black newborns and approximately 100,000 persons in the United States (1). This disease burden has a considerable impact on individuals affected and on health care systems. In the United States alone, the medical cost of caring for patients with SCD exceeds $1 billion annually. SCD is caused by a point mutation in codon 6 of the b-globin chain that results in an amino acid substitution of valine for glutamic acid, and promotes the formation of long hemoglobin polymers under hypoxic conditions. This abnormal polymerization deforms erythrocytes and causes significant alterations in red cell integrity, rheologic properties, and lifespan. SCD leads to chronic hemolysis and a vasculopathy that involves virtually every organ. Most adults and many children develop a chronic, debilitating condition, leading to high rates of disability and unemployment. A current cohort of adults that were followed and treated with disease-modifying therapy at two large academic medical centers had a median survival of 48 years (2), which is not much different when compared with a NIHsponsored multicenter, prospective study of a cohort of adults with SCD that was published 25 years ago (3). Allogeneic blood or marrow transplantation (alloBMT) is the only cure for patients with sickle cell disease (SCD) (4). Worldwide, nearly 2000 [].

Original languageEnglish (US)
Pages (from-to)7-9
Number of pages3
JournalJournal of Clinical Investigation
Volume130
Issue number1
DOIs
StatePublished - Jan 2 2020

Fingerprint

Sickle Cell Anemia
Unemployment
Globins
Valine
Amino Acid Substitution
Hemolysis
Point Mutation
Codon
Polymerization
Multicenter Studies
Glutamic Acid
Hemoglobins
Transplantation
Erythrocytes
Bone Marrow
Newborn Infant
Prospective Studies
Delivery of Health Care
Costs and Cost Analysis
Survival

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Are genetic approaches still needed to cure sickle cell disease? / Brodsky, Robert A.; DeBaun, Michael R.

In: Journal of Clinical Investigation, Vol. 130, No. 1, 02.01.2020, p. 7-9.

Research output: Contribution to journalReview article

@article{99d6e922867c48dfb26eb620d7695e63,
title = "Are genetic approaches still needed to cure sickle cell disease?",
abstract = "Sickle cell disease (SCD) is a heritable disorder of hemoglobin that affects 1 of every 400 black newborns and approximately 100,000 persons in the United States (1). This disease burden has a considerable impact on individuals affected and on health care systems. In the United States alone, the medical cost of caring for patients with SCD exceeds $1 billion annually. SCD is caused by a point mutation in codon 6 of the b-globin chain that results in an amino acid substitution of valine for glutamic acid, and promotes the formation of long hemoglobin polymers under hypoxic conditions. This abnormal polymerization deforms erythrocytes and causes significant alterations in red cell integrity, rheologic properties, and lifespan. SCD leads to chronic hemolysis and a vasculopathy that involves virtually every organ. Most adults and many children develop a chronic, debilitating condition, leading to high rates of disability and unemployment. A current cohort of adults that were followed and treated with disease-modifying therapy at two large academic medical centers had a median survival of 48 years (2), which is not much different when compared with a NIHsponsored multicenter, prospective study of a cohort of adults with SCD that was published 25 years ago (3). Allogeneic blood or marrow transplantation (alloBMT) is the only cure for patients with sickle cell disease (SCD) (4). Worldwide, nearly 2000 [].",
author = "Brodsky, {Robert A.} and DeBaun, {Michael R.}",
year = "2020",
month = "1",
day = "2",
doi = "10.1172/JCI133856",
language = "English (US)",
volume = "130",
pages = "7--9",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "The American Society for Clinical Investigation",
number = "1",

}

TY - JOUR

T1 - Are genetic approaches still needed to cure sickle cell disease?

AU - Brodsky, Robert A.

AU - DeBaun, Michael R.

PY - 2020/1/2

Y1 - 2020/1/2

N2 - Sickle cell disease (SCD) is a heritable disorder of hemoglobin that affects 1 of every 400 black newborns and approximately 100,000 persons in the United States (1). This disease burden has a considerable impact on individuals affected and on health care systems. In the United States alone, the medical cost of caring for patients with SCD exceeds $1 billion annually. SCD is caused by a point mutation in codon 6 of the b-globin chain that results in an amino acid substitution of valine for glutamic acid, and promotes the formation of long hemoglobin polymers under hypoxic conditions. This abnormal polymerization deforms erythrocytes and causes significant alterations in red cell integrity, rheologic properties, and lifespan. SCD leads to chronic hemolysis and a vasculopathy that involves virtually every organ. Most adults and many children develop a chronic, debilitating condition, leading to high rates of disability and unemployment. A current cohort of adults that were followed and treated with disease-modifying therapy at two large academic medical centers had a median survival of 48 years (2), which is not much different when compared with a NIHsponsored multicenter, prospective study of a cohort of adults with SCD that was published 25 years ago (3). Allogeneic blood or marrow transplantation (alloBMT) is the only cure for patients with sickle cell disease (SCD) (4). Worldwide, nearly 2000 [].

AB - Sickle cell disease (SCD) is a heritable disorder of hemoglobin that affects 1 of every 400 black newborns and approximately 100,000 persons in the United States (1). This disease burden has a considerable impact on individuals affected and on health care systems. In the United States alone, the medical cost of caring for patients with SCD exceeds $1 billion annually. SCD is caused by a point mutation in codon 6 of the b-globin chain that results in an amino acid substitution of valine for glutamic acid, and promotes the formation of long hemoglobin polymers under hypoxic conditions. This abnormal polymerization deforms erythrocytes and causes significant alterations in red cell integrity, rheologic properties, and lifespan. SCD leads to chronic hemolysis and a vasculopathy that involves virtually every organ. Most adults and many children develop a chronic, debilitating condition, leading to high rates of disability and unemployment. A current cohort of adults that were followed and treated with disease-modifying therapy at two large academic medical centers had a median survival of 48 years (2), which is not much different when compared with a NIHsponsored multicenter, prospective study of a cohort of adults with SCD that was published 25 years ago (3). Allogeneic blood or marrow transplantation (alloBMT) is the only cure for patients with sickle cell disease (SCD) (4). Worldwide, nearly 2000 [].

UR - http://www.scopus.com/inward/record.url?scp=85077403647&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85077403647&partnerID=8YFLogxK

U2 - 10.1172/JCI133856

DO - 10.1172/JCI133856

M3 - Review article

C2 - 31738187

AN - SCOPUS:85077403647

VL - 130

SP - 7

EP - 9

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

IS - 1

ER -