Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits. Common hemoglobinopathies include sickle-cell disease. It is estimated that 7% of worlds population (420 million) are carriers, with 60% of total and 70% pathological being in Africa. Hemoglobinopathies are most common in populations from Africa, the Mediterranean basin and Southeast Asia. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. Thalassemias, in contrast, usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some hemoglobinopathies are also thalassemias, but most are not. ...
We have reported these cases to highlight new treatment modalities for cholestasis in hemoglobinopathies and stimulate the search for the etiopathogenesis. The prevalence of hemoglobinopathies varies with geographic locations and ethnic groups in India. Among the clinically important hemoglobinopathies (Hb S, Hb D, Hb E and beta thalassemia), hemoglobin E (Hb E) is mostly restricted to the North-eastern Indian states with an average allele frequency of 10.9% [6]. In a large multicenter study in India, HbD trait was more common among Sikhs (1.4%) and few individuals with HbD homozygous, HbD-β-thalassemia, HbD Iran trait, HbQ India trait, and Hb Lepore trait were also encountered at the different centers [7].. Heterozygous Hb D-Punjab is a clinically silent condition, but coinheritance of Hb D with Hb S or beta thalassemia produces clinically significant conditions like sickle cell anemia and chronic hemolytic anemia of moderate severity [8]. Recurrent jaundice is more commonly described in Hb SD ...
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Such variants, called hemoglobinopathies, can include inherited hemoglobin variants, elevated fetal hemoglobin, and hemoglobin s and e which are prevalent in people of southeast asia, mediterranean, and african descent. 2 one variant of particular concern is the sickle cell trait.. Learn about the hemoglobin a1c test, sickle cell trait and other hemoglobinopathies and diabetes: important information for physicians.. Hemoglobinopathy and interference with a1c assessment. a1c represents the main fraction of hemoglobin bound to glucose (glycohemoglobin) and is normally present at low levels in red blood cells. 10 in patients with diabetes having normal hemoglobin, a1c values strongly correlate with blood glucose level... A patients a1c result is radically different from a previous a1c result following a change in laboratory a1c methods; according to the ngsp - the hemoglobin a1c (a1c) test can be unreliable for diagnosing or monitoring diabetes and prediabetes in people with inherited hemoglobin ...
Abstract:. Background: Hemoglobinopathies comprising of thalassemias and various hemoglobin (Hb) variants continue to plague the health system of India. Aims: To find out the prevalence of various hemoglobinopathies in the study population and to identify any association with the various ethnic groups residing in rural community of Darjeeling district, West Bengal. Materials and Methods: A community-based cross-sectional study was conducted in Naxalbari block of Darjeeling district, West Bengal from June 2011 to August 2011, involving hemoglobin variant screening by high-performance liquid chromatography (HPLC) method of 188 antenatal women, selected through multistage random sampling technique. Results: 26.6% of mothers had abnormal hemoglobin, the commonest being the Hemoglobin E (Hb E) trait (15.42%). The prevalence of homozygous HbE, HbE thalassemia, -thalassemia trait and hemoglobin S-trait in the studied population was 6.91%, 0.53%, 2.12% and 1.06% respectively. There was a single ...
[156 Pages Report] Check for Discount on Global Hemoglobinopathies Consumption 2016 Market Research Report report by QYResearch Group. The Global Hemoglobinopathies Consumption 2016 Market Research Report is a...
Patients diagnosed as having hemoglobinopathies are exposed to serious bacterial infections, principally those patients that underwent splenectomy. Since the introduction of anti pneumococcal vaccine the incidence decreased significantly but other bacteria besides encapsulated bacteria takes place as principal cause of invasive infections. The purpose of this study is to analyse in a retrospective study the incidence of those infections in a group of patients suffering from thalassemia and sickle cell anemia treated in our clinic ...
The NHRL offers a service for the identification of haemoglobinopathy genotypes by the molecular analysis of DNA and haematological investigation. This includes the investigation of difficult/complex phenotypes and the identification of carrier states for antenatal patients. It also offers a prenatal diagnosis service by fetal DNA analysis for sickle cell disease, α-thalassaemia and β-thalassaemia. Genetic tests for all known haemoglobinopathy mutations are available.. ...
The review programme of services for people with haemoglobin disorders took place between 2019 and 2020. The Overview Report summarising the key findings of the programme is now available.. Overview Report - Services for People with Haemoglobin Disorders. Thirty-two services for adults and 32 services for children and young people with haemoglobin disorders took part in a self-assessment validation process. Peer-led review visits were subsequently conducted in 25 services. Reports of each peer review visit are available on the QRS website: qualityreviewservicewm.nhs.uk/reviews/. ...
Description of disease Hemoglobin electrophoresis. Treatment Hemoglobin electrophoresis. Symptoms and causes Hemoglobin electrophoresis Prophylaxis Hemoglobin electrophoresis
Hemoglobinopathies Associated with Unstable Hemoglobin. In: Lichtman MA, Kaushansky K, Prchal JT, Levi MM, Burns LJ, Armitage JO. Lichtman M.A., Kaushansky K, Prchal J.T., Levi M.M., Burns L.J., Armitage J.O. Eds. Marshall A. Lichtman, et al.eds. Williams Manual of Hematology, 9e New York, NY: McGraw-Hill; . http://hemonc.mhmedical.com/content.aspx?bookid=1889§ionid=137388048. Accessed January 22, 2018 ...
The costs of screening and diagnosis of haemoglobinopathies in newborns reported here are for a region where the prevalence is relatively high, but the model presented allows costs to be quantified for both targeted and universal screening in areas of differing prevalence. It is intended that this analysis will inform commissioning decisions on appropriate levels of screening for different health districts and supplement existing guidance.1 These decisions should depend on the proportions of the population who carry haemoglobinopathy traits, which are related to the concentration of specific ethnic populations (African, Caribbean, Mediterranean, Asian, and those from the Far East and Middle East) and costs of selection, screening, and follow up.2 Two recent North American studies have examined the cost effectiveness of neonatal haemoglobinopathy screening. Tsevat et al 3 concluded that screening black populations in the USA was very worthwhile, but for non-black populations the cost was high for ...
The molecular genetics laboratory is a National Centre for the genetic diagnosis of the haemoglobin disorders including prenatal diagnosis and also provides a genetic haemochromatosis service. In addition the laboratory provides an international service for prenatal diagnosis. The molecular Genetics laboratory is a designated specialised DNA laboratory by the NHS Sickle Cell and Thalassaemia Screening Program and is a member of the UK Genetic Testing Network (UKGTN). For full details of the molecular genetic testing carried out see the Haemoglobinopathy Genetics User handbook.. Access to Patient Results. Results for patients seen within the Trust are scanned onto CDR. Results from other referrers are faxed or posted depending on the urgency of the result. ...
Describes how a hemoglobinopathy evaluation is used, when a hemoglobinopathy evaluation is ordered, and what the results of a hemoglobinopathy evaluation might mean
Cambridge, Mass and Richmond, Calif. - Biogen Idec (NASDAQ:BIIB) and Sangamo BioSciences, Inc. (NASDAQ: SGMO) announced today an exclusive worldwide collaboration and license agreement focused on the development of therapeutics for hemoglobinopathies, inherited conditions that result from the abnormal structure or underproduction of hemoglobin. The agreement will enable Biogen Idec to further enhance its expertise in non-malignant hematology by leveraging Sangamos proprietary genome-editing technology platform to develop treatments targeting sickle cell disease (SCD) and beta-thalassemia.. Our collaboration with Sangamo is expected to help us expand our capabilities to develop treatments for people with serious, inherited hematologic conditions, said Douglas E. Williams, Ph.D., Biogen Idecs executive vice president of research and development. Building upon emerging science related to fetal hemoglobin regulation, we intend to develop Sangamos novel gene-editing technology to create a ...
The postnatal pathology of α-thalassemia is mild with 1 or 2 and intermediate with 3 affected genes (HbH disease). It would be worthwhile to pay attention to prevention of these severe inherited blood diseases called hemoglobinopathies. The role of the midwife and the gynecologist is fundamental in recognizing potential carriers, provide carriers with information and refer couples at risk to the clinical geneticist for counseling. The health professional should realize that this trait is familial, and think of cascade screening. Young carrier couples are entitled to know about the genetic risk of having an affected child with Sickle Cell Disease of Thalassemia Major, and should be offered counseling to make an informed choice ...
Heritable anemia presents an array of chronic symptoms that in many instances arise shortly after birth and persist throughout a patients life. Beyond the direct morbidity associated with chronic anemia, the use of regular blood transfusions can lead to a host of other complications, including iron aggregation throughout the body that can produce serious complications of the heart, liver, and hormone production. More permanent treatments involving bone marrow transplants can reduce or eliminate the need for blood transfusions, but come with their own possible complications including secondary infections and eventual sensitization and rejection of the transplant tissue. Dr. Christopher Lux has a strong clinical understanding and first-hand experience with pediatric hematology and oncology, with a special focus on two hemoglobinopathies, sickle cell disease and beta thalassemia, that arise from hemoglobin gene mutations. The basis of Dr. Luxs research is to develop more effective and permanent ...
In 2010, the Registry and Surveillance System for Hemoglobinopathies (RuSH) pilot project was implemented by the Centers for Disease Control and Prevention (CDC) to collect state-specific, population-based data on people with sickle cell disease (SCD) and thalassemia. The pilot project is being supported and conducted in collaboration with the National Institutes of Healths National Heart, Lung, and Blood Institute. Overall project goals include determining the number of people who have SCD and thalassemia and increasing knowledge and awareness about health care use and outcomes. Currently, seven states are funded to participate in data collection: California, Florida, Georgia, Michigan, New York, North Carolina, and Pennsylvania. In addition to collecting and linking their unique data to help reach these goals, the states also have planned and implemented health promotion initiatives designed to increase awareness about RuSH in the affected communities to aid in the data collection. The ...
Biogen Idec (NASDAQ:BIIB) and Sangamo BioSciences, Inc. (NASDAQ: SGMO) announced today an exclusive worldwide collaboration and license agreement focused on the development of therapeutics for hemoglobinopathies, inherited conditions that result from the abnormal structure or underproduction of hemoglobin. The agreement will enable Biogen Idec to further enhance its expertise in non-malignant hematology by leveraging Sangamos proprietary genome-editing technology platform to develop treatments targeting sickle cell disease (SCD) and beta-thalassemia.
ZUG, Switzerland and CAMBRIDGE, Mass. and BOSTON, Nov. 04, 2020 (GLOBE NEWSWIRE) -- CRISPR Therapeutics (Nasdaq: CRSP) and Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced data in seven patients from two ongoing Phase 1/2 clinical trials of the investigational CRISPR/Cas9 gene-editing therapy CTX001 in severe hemoglobinopathies has been accepted for an oral presentation during the Plenary Scientific Session at the annual ASH Meeting and Exposition, which will take place virtually from December 5-8, 2020. Haydar Frangoul, M.D., Medical Director of Pediatric Hematology and Oncology at Sarah Cannon Research Institute, HCA Healthcares TriStar Centennial Medical Center, will deliver the presentation on behalf of all the authors on December 6, 2020. An abstract posted online today includes data from five patients with three months to 15 months of follow-up after CTX001 infusion in the ongoing Phase 1/2 CLIMB-111 trial in transfusion-dependent beta thalassemia (TDT) and data from two
A large number (,800) of variants of hemoglobin (Hb) have been recognized. They are identified by capital letters (eg, Hb A or Hb S), or by the city in which the variant was first discovered (eg, Hb Koln).. Mayo Medical Laboratories receives specimens for this test from a wide geographic area and nearly one-half of all specimens received exhibit abnormalities. The most common abnormality is an increase in Hb A2 to about 4% to 8%, which is diagnostic of beta-thalassemia minor. A wide variety of other hemoglobinopathies also have been encountered. Ranked in order of relative frequency, these are: Hb S (sickle cell disease and trait), C, E, Lepore, G-Philadelphia, H, D-Los Angeles, Koln, Constant Spring, O-Arab, and others. Hb C and S are found mostly in people from west or central Africa and Hb E and H in people from Southeast Asia. Hemoglobin electrophoresis is often used in the evaluation of unexplained microcytosis, thus accounting for the frequent detection of Hb Lepore, which is relatively ...
HEMOGLOBINOPATHIES. BIOCHEMISTRY DR AMINA TARIQ. A large number of mutations have been described in the globin genes. These mutations can be divided into two distinct types: Slideshow 2129166 by jory
In view of above, the Thalassaemia International Federation (TIF), an international leader in educating and informing patients with thalassaemia and haemoglobin disorders, has developed and is now sharing with its global patients community an informational leaflet about the new COVID-19 with a special focus to the challenges it presents for patients affected by thalassaemia and sickle cell disease (SCD).. The leaflet was compiled by Dr Androulla Eleftheriou, TIF Executive Director, and Dr Michael Angastiniotis, TIF Medical Advisor with the invaluable contribution of TIFs International Advisory Panel Members, Dr Maria D. Cappellini, Professor of Haematology, Dr John Porter , Professor of Haematology, Dr Ali Taher, Professor of Haematology, Dr Antonio Piga, Professor of Paediatrics, Dr Paul Telfer, Consultant Haematologist, and Dr Perla Eleftheriou, Consultant Haematologist.. Τhe COVID-19 Pandemic & Haemoglobin Disorders Leaflet is available in both English & Greek.. ...
Icd-10: r79.89 short description: other specified abnormal findings of blood chemistry long description: other specified abnormal findings of blood chemistry this is the 2018 version of the icd-10-cm diagnosis code r79.89 valid for submission the code r79.89 is valid for submission for hipaa-covered transactions. code classification. symptoms, signs and abnormal clinical and laboratory. Icd-10: d58.2 short description: other hemoglobinopathies long description: other hemoglobinopathies this is the 2018 version of the icd-10-cm diagnosis code d58.2 valid for submission the code d58.2 is valid for submission for hipaa-covered transactions.. Icd-10: r73.09 short description: other abnormal glucose long description: other abnormal glucose this is the 2018 version of the icd-10-cm diagnosis code r73.09 valid for submission the code r73.09 is valid for submission for hipaa-covered transactions. deleted code this code was deleted in the 2019 icd-10 code set with the code(s) listed below. the national ...
Blood Transfusion Therapy in Haemoglobinopathies This question was submitted by forum member, Malcolm Needs. Any errors are those of the site admin, not Malcolm. Blood Transfusion Therapy for Haemoglobinopathies.pptx
Developed by the CAP Hematology and Clinical Microscopy Resource Committee, this comprehensive guide draws its material from CAP hemoglobinopathy surveys. Presented as a series of learning exercises, the cases are arranged in increasing order of complexity and represent a comprehensive array of hemoglobin disorders. Includes 45
Developed by the CAP Hematology and Clinical Microscopy Resource Committee, this comprehensive guide draws its material from CAP hemoglobinopathy surveys. Presented as a series of learning exercises, the cases are arranged in increasing order of complexity and represent a comprehensive array of hemoglobin disorders. Includes 45
Hemoglobinopathies are the most common inherited disorders. Newborn blood screening for clinically significant hemoglobin variants, including sickle (HbS), HbC, and HbD, has been adopted in many countries as it is widely acknowledged that early detection improves the outcome. We present a method for determination of Hb variants by direct surface sampling of dried blood spots by use of an Advion Triversa Nanomate automated electrospray system coupled to a high-resolution mass spectrometer. The method involves no sample preparation. It is possible to unambiguously identify homozygous and heterozygous HbS, HbC, and HbD variants in |10 min without the need for additional confirmation. The method allows for repeated analysis of a single blood spot over a prolonged time period and is tolerant of blood spot storage conditions.
Last week, CryoSave released a cord blood stem cell unit from the state of the art laboratory in Geneva for the clinical treatment of a young boy who suffers from thalassemia major. The 9 year old patient will receive an allogeneic transplant in Switzerland of the cord blood stem cells from his now 2 year old brother.. Zutphen, The Netherlands - 25 April 2017. Beta thalassemia, is a genetic abnormality of the hemoglobin molecule whereby patients do not transport oxygen properly in their red blood cells. From around 2 years of age, children typically become chronically anemic, tired and prone to infection. They fail to grow normally and are, in the severest cases, dependent on blood transfusions for survival, with the inherent risks and complications that this may bring.. Hemoglobinopathies are included in the current list of around 70 diseases that can be treated with stem cells. They are a group of genetic defects that result in the abnormal structure of one of the globin chains of the ...
Beta-thalassemias and hemoglobinopathies are serious inherited blood diseases caused by abnormal or deficiency of beta A chains of hemoglobin, the protein in red blood cells which delivers oxygen throughout the body. The diseases are characterized by hemolytic anemia, organ damage, and early mortality. Increases in another type of (normal) hemoglobin, fetal globin (HbF), which is normally silenced in infancy, reduce the severity of both conditions. Even incremental augmentation of fetal globin is established to reduce red blood cell pathology, anemia, certain complications, and to improve survival.. This trial will evaluate an oral drug discovered in a high throughput screen, which increases fetal globin protein and messenger ribonucleic acid (mRNA) to high levels in anemic nonhuman primates and in transgenic mice. The study drug acts by suppressing 4 repressors of the fetal globin gene promoter in progenitor cells from thalassemia patients. The drug has been used for many years in a combination ...
Outline Introduction Complex haemoglobinopathies Different ethnic groups Gene-gene interactions Diagnosis of complex haemoglobinopaties Prenatal diagnosis Case studies Summary 2
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Semantic Scholar extracted view of The assays of glycosylated proteins in haemoglobinopathies and their use in screening for diabetes mellitus. by J P Moutet et al.
The Haemoglobinopathies: An Introduction Tony Roscioli Clinical Geneticist, Royal Prince Alfred Hospital & NHMRC Research Post-graduate Fellow, Centre for Vasc…
If the couple has other children, only test them if the partner is a carrier of sickle cell disease. Otherwise, there is no need to test them unless they are present with health problems. It is normally recommended to postpone testing until the age of 16, postpone testing until the age of 16, to enable them to make their own informed decision.. Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings) They can request a test called Haemoglobinopathy screen via their GP.. Give an appropriate information leaflets. (Information for mums and dads: your baby carries a gene for unusual haemoglobin and You are a carrier of haemoglobin C).. Make sure the patient has received his/her haemoglobinopathy card.. Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.. More Information. If you would like more information about haemoglobinopathies and testing, ...
Hemoglobinopathy Evaluation identifies and quantifies normal and abnormal forms of hemoglobin present: Hb A, A2, F, S and C. It is used diagnosis forms of Anemia.
Haemoglobinopathies are inherited blood disorders that reduce the production of haemoglobin, a substance within red blood cells that carries oxigen through all the body. Haemoglobinopathies are inherited illnesses that can pass from parents to their children. Get informed! All you need to do is a haemogram and a haemoglobins study. Ask your family doctor. Even parents who are both carriers of a haemoglobinopathy can have a healthy family together.. ...
The objective of this study was to determine the frequency of ethnic groups within the antenatal population in central Manchester and thereby ensure that the haemoglobinopathy service was targeting the correct population and their needs. Ethnic data collection records of 6 718 patients were analysed over a 7 month period. Of these 62,3% stated...
Hemoglobin File was also uncovered to obtain a special amino acid sequence, without a doubt developing a distinctive chain, the g (gamma) chain in place of the b chain, throughout almost all of fetal life (for more specifics see Stryer, p. 154). Then, in the early nineteen fifties two other hemoglobin-based mostly conditions, designated Hemoglobin C and Hemoglobin D, had been identified by Harvey Itano in two individual family members. These hemoglobins ended up also discovered to own different eletrophoretic mobilities and distinctive amino acid sequences, along with exclusive physiological outcomes (not as intense, having said that, as sickle cell hemoglobin). To learn more about other hemoglobinopathies, click the subsequent Internet site Taken with each other, these illustrations all supported the final paradigm that mutations generated alterations from the amino acid sequence of proteins that, in turn, experienced substantial consequences over the proteins purpose. This type of official ...
Animal models of β-hemoglobinopathies: utility and limitations Bradley McColl, Jim Vadolas Cell and Gene Therapy Laboratory, Murdoch Childrens Research Institute, Royal Childrens Hospital, Parkville, VIC, Australia Abstract: The structural and functional conservation of hemoglobin throughout mammals has made the laboratory mouse an exceptionally useful organism in which to study both the protein and the individual globin genes. Early researchers looked to the globin genes as an excellent model in which to examine gene regulation - bountifully expressed and displaying a remarkably consistent pattern of developmental activation and silencing. In parallel with the growth of research into expression of the globin genes, mutations within the β-globin gene were identified as the cause of the β-hemoglobinopathies such as sickle cell disease and β-thalassemia. These lines of enquiry stimulated the development of transgenic mouse models, first carrying individual human globin genes and then substantial
Hemoglobinopathy is a term for any blood disorder where the structure of hemoglobin is abnormal, or where hemoglobin was improperly formed. Examples are...
The global hemoglobinopathy market is projected to register a healthy CAGR of 8.3% over the forecast period owing to various factors, on which Persistence Market Research offers detailed insights.
LONDON, Dec. 14, 2016 /PRNewswire/ -- Global Market Study on Hemoglobinopathy: Europe Estimated to be the Dominant Regional Market in 2016.
α-globin-like genes on chromosome 16 β-globin-like genes on chromosome α-Gene family: contains a- two genes for the α-globin chains b-The ζ-gene which is expressed. c- other globin-like genes that are not expressed (pseudogenes). α-globin-like genes on chromosome 16 β-globin-like genes on chromosome α-Gene family: contains a- two genes for the α-globin chains b-The ζ-gene which is expressed. c- other globin-like genes that are not expressed (pseudogenes). Organization of the globin genes
In recent years there has been a rapid increase in knowledge about the structure and function of the hemoglobin molecule in health and disease. Many genetic disorders of hemoglobin synthesis have...
CASE HISTORY • Part 1 A 22-year-old African American woman presents to her obstetrician for prenatal care. She reports that she has been anemic since childhood but is unclear as to what kind of anemia. Past medical history is positive for splenectomy following blunt trauma to the abdomen in a car accident at age 16. Otherwise review of systems negative. A routine CBC shows the following results:. CBC: Hematocrit/hemoglobin - 33%/11 g/dL (IU - 110 g/L). MCV - 75 fL MCH - 28 pg MCHC - 30 g/dL. RDW-CV - 16%. WBC count - 7,400/μL. Platelet count - 245,000/μL. ...
Cardiology news, research and treatment articles offering cardiology healthcare professionals cardiology information and resources to keep them informed.
The objective of this project is to design, fabricate and test a micro-flow channel that can be used to accurately simulate, detect, analyze and predict the rheological properties of Sickle Cells flowing through arteriole bifurcations of various diameters and lengths. One property of interest is the effect blood osmolarity variations has on Hb SS red cell compliance, as well as, the variation of hematocrit levels. Ultimately, this data and the trends extrapolated from it will be used to understand the differences between healthy and Sickle blood flow in arterioles. As well as, provide information that can help elucidate some precursors of vascular occlusion in sickle cell anemic individuals. This research may also have potential applications to other hemoglobinopathies ...
The objective of this project is to design, fabricate and test a micro-flow channel that can be used to accurately simulate, detect, analyze and predict the rheological properties of Sickle Cells flowing through arteriole bifurcations of various diameters and lengths. One property of interest is the effect blood osmolarity variations has on Hb SS red cell compliance, as well as, the variation of hematocrit levels. Ultimately, this data and the trends extrapolated from it will be used to understand the differences between healthy and Sickle blood flow in arterioles. As well as, provide information that can help elucidate some precursors of vascular occlusion in sickle cell anemic individuals. This research may also have potential applications to other hemoglobinopathies ...