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Haemoglobinopathy

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https://www.readbyqxmd.com/read/28809446/deferasirox-for-managing-iron-overload-in-people-with-thalassaemia
#1
REVIEW
Claudia Bollig, Lisa K Schell, Gerta Rücker, Roman Allert, Edith Motschall, Charlotte M Niemeyer, Dirk Bassler, Joerg J Meerpohl
BACKGROUND: Thalassaemia is a hereditary anaemia due to ineffective erythropoiesis. In particular, people with thalassaemia major develop secondary iron overload resulting from regular red blood cell transfusions. Iron chelation therapy is needed to prevent long-term complications.Both deferoxamine and deferiprone are effective; however, a review of the effectiveness and safety of the newer oral chelator deferasirox in people with thalassaemia is needed. OBJECTIVES: To assess the effectiveness and safety of oral deferasirox in people with thalassaemia and iron overload...
August 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28764232/co-inheritance-of-haemoglobin-d-punjab-and-beta-thalassemia-a-rare-variant
#2
Kalyan Mansukhbhai Shekhda, Alpa C Leuva, Jyoti G Mannari, Aashka Vikas Ponda, Amee Amin
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous or a heterozygous trait with other haemoglobinopathies. Though, haemoglobin D-Punjab is commonly seen, a heterozygous trait with beta thalassemia is a very rare presentation. Here, we present a rare case of co-inheritance of haemoglobin D-Punjab and beta thalassemia in a 19-year-old male of Indian origin...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#3
Chaitra Venkataswamy, Am Shanthala Devi
INTRODUCTION: Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28763121/proportion-of-daily-capillary-blood-glucose-readings-required-in-the-target-range-for-target-glycaemic-control-shift-of-focus-from-target-range-to-proportion-in-range
#4
S Sivasubramaniyam, S Amiel, P Choudhary
AIM: Most guidelines provide people with Type 1 diabetes with pre- and post-meal capillary blood glucose (CBG) targets to achieve optimal glycaemic control. We evaluated the proportion of daily CBG readings between 4 and 10 mmol/l in people achieving different HbA1c levels. METHOD: We analysed CBG data from routine pump/meter downloads from 201 adults treated with continuous subcutaneous insulin infusion (CSII) at a single hospital clinic. Exclusion criteria were CSII < 6 months, < 3 CBG/day, pregnancy, haemoglobinopathy and continuous sensor use...
August 1, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28759700/interventions-for-treating-intrahepatic-cholestasis-in-people-with-sickle-cell-disease
#5
REVIEW
Arturo J Martí-Carvajal, Cristina Elena Martí-Amarista
BACKGROUND: Sickle cell disease is the most common hemoglobinopathy occurring worldwide and sickle cell intrahepatic cholestasis is a complication long recognized in this population. Cholestatic liver diseases are characterized by impaired formation or excretion (or both) of bile from the liver. There is a need to assess the clinical benefits and harms of the interventions used to treat intrahepatic cholestasis in people with sickle cell disease. This is an update of a previously published Cochrane Review...
July 31, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28759112/fluid-replacement-therapy-for-acute-episodes-of-pain-in-people-with-sickle-cell-disease
#6
REVIEW
Uduak Okomo, Martin M Meremikwu
BACKGROUND: Treating vaso-occlusive painful crises in people with sickle cell disease is complex and requires multiple interventions. Extra fluids are routinely given as adjunct treatment, regardless of the individual's state of hydration with the aim of slowing or stopping the sickling process and thereby alleviating pain. This is an update of a previously published Cochrane Review. OBJECTIVES: To determine the optimal route, quantity and type of fluid replacement for people with sickle cell disease with acute painful crises...
July 31, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28674233/prevalence-and-spectrum-of-thalassaemia-in-changsha-hunan-province-china-discussion-of-an-innovative-screening-strategy
#7
Jun He, Houlin Zeng, Lin Zhu, Hanmei Li, Liangcheng Shi, Lanping Hu
Hunan province located in the south of China has a high incidence of haemoglobinopathies. In the present study, we surveyed the accurate population frequency data of the local population in Changsha city of Hunan province in China. The data includes the carrying rate, gene mutation types and their distribution features for thalassaemia. In total, 7500 consecutive samples from five geographical areas of Changsha were analysed for both haematological and molecular parameters. Therewas a high prevalence of carriers of α-thalassaemia (2...
June 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28655781/hepatocyte-specific-hnf4%C3%AE-mir-122-pathway-contributes-to-the-iron-overload-mediated-hepatic-inflammation
#8
Min Li, Yuxiao Tang, Lusha Wu, Fengfeng Mo, Xin Wang, Hongxia Li, Ruirui Qi, Hongwei Zhang, Arun Srivastava, Chen Ling
Hepatic iron-overload (IO) is one of the major complications of transfusional therapy. It was generally thought that IO triggers substantial inflammatory responses by producing reactive oxygen species in hepatic macrophages. Recently, decrease of microRNA-122 was observed in a genetic knockout (Hfe-/-) mouse model of IO. Since hepatocyte-enriched miR-122 is known as a key regulator of multiple hepatic pathways including inflammation, it is of interest whether hepatocyte directly contributes to the IO-mediated hepatic inflammation...
June 27, 2017: Blood
https://www.readbyqxmd.com/read/28550188/recommendations-regarding-splenectomy-in-hereditary-hemolytic-anemias
#9
Achille Iolascon, Immacolata Andolfo, Wilma Barcellini, Francesco Corcione, Loïc Garçon, Lucia De Franceschi, Claudio Pignata, Giovanna Graziadei, Dagmar Pospisilova, David C Rees, Mariane de Montalembert, Stefano Rivella, Antonella Gambale, Roberta Russo, Leticia Ribeiro, Jules Vives-Corrons, Patricia Aguilar Martinez, Antonis Kattamis, Beatrice Gulbis, Maria Domenica Cappellini, Irene Roberts, Hannah Tamary
Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications...
August 2017: Haematologica
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#10
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28511389/variability-of-iron-load-in-patients-of-sickle-cell-anaemia-hbss-a-study-from-eastern-india
#11
Pranati Mohanty, Rabindra Kumar Jena, Sudha Sethy
INTRODUCTION: Sickle Cell Anaemia (SCA) is one of the commonest haemoglobinopathies due to a point mutation (A→T) of the β-globin gene. Out of five haplotypes, the Arab-Indian haplotype present in India is one of the least severe phenotype and least studied also. It is characterized by lifelong haemolytic anaemia requiring red cell transfusion leading to iron overload. In contrast, there is very high incidence of deficiency of iron, folic acid and vitamin B12. AIM: Our objective was to access the Iron status of SCA patients and to find its correlation with various parameters like red cell transfusion, haemolysis and serum hepcidin...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28504327/preferences-for-prenatal-diagnosis-of-sickle-cell-disorder-a%C3%A2-discrete-choice-experiment-comparing-potential-service-users%C3%A2-and-health-care-providers
#12
Melissa Hill, Eugene Oteng-Ntim, Frida Forya, Mary Petrou, Stephen Morris, Lyn S Chitty
BACKGROUND: Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice. OBJECTIVE: Determine service user and provider preferences for key attributes of prenatal diagnostic tests for SCD and examine views on NIPD. METHOD: A questionnaire that includes a discrete choice experiment was used to determine the preferences of service users and providers for prenatal tests that varied across three attributes: accuracy, time of test and risk of miscarriage...
May 15, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28480998/evaluation-of-osmocells-a-new-semi-automatic-device-for-osmotic-fragility-assessment
#13
D Gérard, A-J Fattet, C Brakta, A Phulpin, D Steschenko, J-F Lesesve, J Perrin
INTRODUCTION: The osmotic fragility (OF) test was a central test for the diagnosis of hereditary red blood cell (RBC) disorders (mostly hereditary spherocytosis (HS), but thalassaemia as well). Nowadays although the traditional multitubes method has lost a prominent place, many laboratories still perform such a laboured test, despite the lack of standardization. In fact, the evaluation of OF may offer an inexpensive screening for RBC disorders. We present a new semi-automatic device, allowing the continuous recording of OF, by an updated dialysis method...
May 8, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28426137/hydroxyurea-hydroxycarbamide-for-sickle-cell-disease
#14
REVIEW
Sarah J Nevitt, Ashley P Jones, Jo Howard
BACKGROUND: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting...
April 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28417035/jaw-osteomyelitis-as-a-complication-of-sickle-cell-anaemia-in-three-omani-patients-case-reports-and-literature-review
#15
Hilal Al-Ismaili, Omar Nasim, Abdulaziz Bakathir
Sickle cell anaemia (SCA) is a common haemoglobinopathy among people from the Middle East, the Afro-Caribbean region, the Mediterranean and East India. While osteomyelitis of the long bones is a well-documented complication of SCA, there are few documented cases of SCA patients presenting with jaw osteomyelitis. We report three SCA patients with chronic jaw osteomyelitis who presented to the Department of Oral Health, Sultan Qaboos University Hospital, Muscat, Oman, between 2009 and 2013. Two of the patients had osteomyelitis of the mandible and the third had osteomyelitis of the maxilla...
February 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28409830/magnesium-for-treating-sickle-cell-disease
#16
REVIEW
Nan Nitra Than, Htoo Htoo Kyaw Soe, Senthil K Palaniappan, Adinegara Bl Abas, Lucia De Franceschi
BACKGROUND: Sickle cell disease is an autosomal recessive inherited haemoglobinopathy which causes painful vaso-occlusive crises due to sickle red blood cell dehydration. Vaso-occlusive crises are common painful events responsible for a variety of clinical complications; overall mortality is increased and life expectancy decreased compared to the general population. Experimental studies suggest that intravenous magnesium has proven to be well-tolerated in individuals hospitalised for the immediate relief of acute (sudden onset) painful crisis and has the potential to decrease the length of hospital stay...
April 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#17
Viera Fábryová, Peter Božek, Monika Drakulová, Andrea Kollárová, Zuzana Laluhová Striežencová, Michaela Macichová, Adriena Sakalová
BACKGROUND: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling. METHODS: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing...
March 2017: Central European Journal of Public Health
https://www.readbyqxmd.com/read/28371817/rheumatological-complications-of-beta-thalassaemia-an-overview
#18
Mohammad Hassan A Noureldine, Ali T Taher, Ali A Haydar, Ahmad Berjawi, Munther A Khamashta, Imad Uthman
Beta-thalassaemia, an autosomal recessive haemoglobinopathy, ranks among the most frequent monogenetic diseases globally. The severe form of the disease, beta-thalassaemia major, is accompanied by progressive involvement of multiple organ systems as a result of the disease pathophysiology as well as iron overload from blood transfusions on a regular basis. Some of the manifestations might also be caused by medications used to manage iron overload. The purpose of this review is to highlight the rheumatological complications of beta-thalassaemia, which include musculoskeletal manifestations, such as arthritis and arthropathies, joint effusions, osteoporosis, bone fractures and myalgias, in addition to CTDs, such as pseudoxanthoma elasticum...
March 22, 2017: Rheumatology
https://www.readbyqxmd.com/read/28293406/%C3%AE-thalassemia-distribution-in-the-old-world-an-ancient-disease-seen-from-a-historical-standpoint
#19
REVIEW
Vincenzo De Sanctis, Christos Kattamis, Duran Canatan, Ashraf T Soliman, Heba Elsedfy, Mehran Karimi, Shahina Daar, Yasser Wali, Mohamed Yassin, Nada Soliman, Praveen Sobti, Soad Al Jaouni, Mohamed El Kholy, Bernadette Fiscina, Michael Angastiniotis
BACKGROUND: Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. β-thalassaemia is characterised by the reduced synthesis (β(+)) or absence (β(o)) of the β-globin chains in the HbA molecule, resulting in accumulation of excess unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and in the mature erythrocytes, leading to ineffective erythropoiesis and peripheral haemolysis...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28292285/congenital-malformations-and-medical-conditions-associated-with-orofacial-clefts-in-children-in-burkina-faso
#20
Kisito Nagalo, Isso Ouédraogo, Jean-Martin Laberge, Louise Caouette-Laberge, Jean Turgeon
BACKGROUND: Orofacial clefts are usually isolated cases but can be associated with other congenital malformations that are either recognised or unrecognised syndromes. The reported prevalence and pattern of such associated malformations, however, vary among studies. OBJECTIVES: To assess the frequencies and aetiologies of congenital malformations and associated medical conditions in children with orofacial clefts in Burkina Faso (Western Africa). METHODS: A retrospective descriptive study was carried out at the El Fateh-Suka Clinic in Ouagadougou, Burkina Faso...
March 14, 2017: BMC Pediatrics
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