6 research outputs found
Congenital methemoglobinemia type II: Clinical improvement with short-term methylene blue treatment
We report a case of prophylactic management with methylene blue (MB) in an almost 4âyearâold male with congenital methemoglobinemia type II. He has a CYB5R3 compound heterozygote mutation, causing a cytochromeâb(5) reductase deficiency. Since the MB treatment regimen has commenced, his methemoglobin level has been significantly lower. He has shown modest behavioral improvements (as assessed on the Achenbach behavior report scales). There have been no iatrogenic side effects. These findings are encouraging for symptomatic improvement with regular prophylactic MB treatment but represent a single case report, which must be interpreted with caution
Defining global strategies to improve outcomes in sickle cell disease ::a Lancet Haematology commission
All over the world, people with sickle cell disease (an inherited condition) have premature deaths and preventable severe chronic complications, which considerably affect their quality of life, career progression, and financial status. In addition, these people are often affected by stigmatisation or structural racism, which can contribute to stress and poor mental health. Inequalities affecting people with sickle cell disease are also reflected in the distribution of the diseaseâmainly in sub-Saharan Africa, India, and the Caribbeanâwhereas interventions, clinical trials, and funding are mostly available in North America, Europe, and the Middle East. Although some of these characteristics also affect people with other genetic diseases, the fate of people with sickle cell disease seems to be particularly unfair. Simple, effective interventions to reduce the mortality and morbidity associated with sickle cell disease are available. The main obstacle preventing better outcomes in this condition, which is a neglected disease, is associated with inequalities impacting the patient populations. The aim of this Commission is to highlight the problems associated with sickle cell disease and to identify achievable goals to improve outcomes both in the short and long term.
The ambition for the management of people with sickle cell disease is that curative treatments become available to every person with the condition. Although this would have seemed unrealistic a decade ago, developments in gene therapy make this potentially achievable, albeit in the distant future. Until these curative technologies are fully developed and become widely available, health-care professionals (with the support of policy makers, funders, etc) should make sure that a minimum standard of care (including screening, prophylaxis against infection, acute medical care, safe blood transfusion, and hydroxyurea) is available to all patients.
In considering what needs to be achieved to reduce the global burden of sickle cell disease and improve the quality of life of patients, this Commission focuses on five key areas: the epidemiology of sickle cell disease (Section 1); screening and prevention (Section 2); established and emerging treatments for the management of the disease (Section 3); cellular therapies with curative potential (Section 4); and training and education needs (Section 5). As clinicians, researchers, and patients, our objective to reduce the global burden of sickle cell disease aligns with wider public health aims to reduce inequalities, improve health for all, and develop personalised treatment options. We have observed in the past few years some long-awaited momentum following the development of innovative point-of-care testing devices, new approved drugs, and emerging curative options. Reducing the burden of sickle cell disease will require substantial financial and political commitment, but it will impact the lives of millions of patients and families worldwide and the lessons learned in achieving this goal would unarguably benefit society as a whole
Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology Commission
All over the world, people with sickle cell disease (an
inherited condition) have premature deaths and prevenÂ
table severe chronic complications, which considerably
affect their quality of life, career progression, and finanÂ
cial status. In addition, these people are often affected by
stigmatisation or structural racism, which can contribute
to stress and poor mental health. Inequalities affecting
people with sickle cell disease are also reflected in the
distribution of the diseaseâmainly in subÂSaharan Africa,
India, and the Caribbeanâwhereas interventions,
clinical trials, and funding are mostly available in
North America, Europe, and the Middle East. Although
some of these characteristics also affect people with other
genetic diseases, the fate of people with sickle cell disease
seems to be particularly unfair. Simple, effective
interventions to reduce the mortality and morbidity
associated with sickle cell disease are available. The main
obstacle preventing better outcomes in this condition,
which is a neglected disease, is associated with
inequalities impacting the patient populations. The aim
of this Commission is to highlight the problems
associated with sickle cell disease and to identify
achievable goals to improve outcomes both in the short
and long term.
The ambition for the management of people with
sickle cell disease is that curative treatments become
available to every person with the condition. Although
this would have seemed unrealistic a decade ago,
developments in gene therapy make this potentially
achievable, albeit in the distant future. Until these
curative technologies are fully developed and become
widely available, healthÂcare professionals (with the
support of policy makers, funders, etc) should make sure
that a minimum standard of care (including screening,
prophylaxis against infection, acute medical care, safe
blood transfusion, and hydroxyurea) is available to all
patients.
In considering what needs to be achieved to reduce the
global burden of sickle cell disease and improve the
quality of life of patients, this Commission focuses on
five key areas: the epidemiology of sickle cell disease
(Section 1); screening and prevention (Section 2);
established and emerging treatments for the
management of the disease (Section 3); cellular therapies
with curative potential (Section 4); and training and
education needs (Section 5). As clinicians, researchers,
and patients, our objective to reduce the global burden of
sickle cell disease aligns with wider public health aims to
reduce inequalities, improve health for all, and develop
personalised treatment options. We have observed in the
past few years some longÂawaited momentum following
the development of innovative pointÂofÂcare testing
devices, new approved drugs, and emerging curative
options. Reducing the burden of sickle cell disease will
require substantial financial and political commitment,
but it will impact the lives of millions of patients and
families worldwide and the lessons learned in achieving
this goal would unarguably benefit society as a whol