If you continue browsing the site, you agree to the use of cookies on this website. Hemoglobinopathies are a group of genetic issues that change a persons hemoglobin. Iron overload is frequently due to excessive iron deposition as a result of blood transfusions and increased. These disorders include both sickle cell disease scd and thalassemia. The term hemoglobinopathy comprises several genetic disorders leading to defective or insufficient hemoglobin synthesis.
Define hemoglobinopathies family of genetic diorders caused by production of a structurally abnormal hb molecule orand synthesis of insufficient quantities of normal hb types and examples of hemoglobinopathies. Thalassemiasdefective biosynthesis of globin chains iii. Definition of hemoglobinopathies sickle cell disease and hemoglobin c slide 3 hemoglobin it belongs to the class of proteins referred to as globular heme proteins. Thalassemia and hemoglobinopathies linkedin slideshare. Type and frequency of hemoglobinopathies, diagnosed in the. For language access assistance, contact the ncats public information officer. Two of them are alpha chains but the other two may be beta, gamma, delta or epsilon depending on the types. Hemoglobinopathies are the most common genetic diseases, affecting approximately 7% of the worlds population. Hemoglobin disorders hemoglobinopathies information for parents overview. More than 700 forms of hemoglobinopathy or abnormal hemoglobin variants have been reported. Epidemiology, care and prevention of hemoglobinopathies. Many hemoglobinopathies can be diagnosed using electrophoretic or high performance liquid chromatography hplc techniques, but some may be missed genetic testing importance of cbc thalassemias red cell indices are critical to diagnosis hypochromic microcytic anemia mcv mean corpuscular volume or size of the cell is key. Defects in these genes can produce abnormal hemoglobins and anemia, which are conditions termed hemoglobinopathies. In this article i will be briefly running through the various forms of haemoglobin present in a human.
This chapter discusses different kinds of hemoglobinopathies and presents. Learn about hemoglobinopathy disorders to help understand how patients with betathalassemia and sickle cell disease can receive supportive care, and in some cases, a cure through stem cell transplantation. Molecular diagnosis of thalassemias and hemoglobinopathies. Firstly lets recap the role and structure of haemoglobin. If you have ancestry from africa, southeast asian or. Sickle cell disease, alpha thalassemia and beta thalassemia. The hemoglobinopathies encompass all genetic diseases of hemoglobin. Hb h is an abnormal hemoglobin that occurs in some cases of alpha thalassemia. Current practices for screening, confirmation and followup 5 iii. Due to eight causative genes and various types of mutations that occur, the hemoglobinopathies are. Most hemoglobin is made up of 2 parts, alpha globin and beta globin.
A separate set of diseases called thalassemias involves underproduction of normal and sometimes abnormal hemoglobins, through problems and mutations in globin gene regulation. The protein part of hemoglobin is a globin protein, which is made up of four chains. There are 3 types categorized according to severity thalassemia minor thalassemia. Hemoglobinopathies in the neonate american academy of. Structural hemoglobinopathieshemoglobins with altered amino acid sequences eg hbs ii.
Hemoglobinopathy, also spelled haemoglobinopathy, any of a group of disorders caused by the presence of variant hemoglobin in the red blood cells. Thus, some hemoglobinopathies are also thalassemias, but most are not. Slide 1 hemoglobinopathies slide 2 lecture outline an overview of the structure of hemoglobin. Laboratory diagnosis of hemoglobinopathies jama jama. The majority of these are due to a single amino acid substitution caused by a point mutation in the globin chain dna. If you have problems viewing pdf files, download the latest version of adobe reader. It is a defect that results in abnormal structure of he globin chains of the hemoglobin molecule. Type and frequency of hemoglobinopathies, diagnosed in the area of karachi, in pakistan article pdf available in cogent medicine 31 may 2016 with 320 reads how we measure reads. Hemoglobin is a conjugated chromoprotein having heme as its prosthetic group.
Mutations associated with hemoglobinopathies are divided into three main categories. The following table summarizes the affected populations, prevalence, and outcomes of common hemoglobinopathies. Thalassemic hemoglobin variantsstructurally abnormal hb associated. Newborn screening for biotinidase deficiency kansas department. What are the different types of hemoglobinopathies. Worldwide hemoglobinopathies market forecasts on regional growth, industry players and more hemoglobinopathies market size was valued at over usd 4 billion in 2015. There are 2 main types of hemoglobinopathies, one of which comprises disorders of decreased or absent production of a globin gene. Ali on what are the different types of hemoglobinopathies. Hemoglobinopathies emphesis on thalassemia ans sickle cell anemia slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising.
Hemoglobin is an oxygen carrying pigment which is composed of a protein and prosthetic group. Hemoglobinopathy is the medical term for a group of blood disorders and diseases that affect red blood cells. Hemoglobinopathies hemoglobin disorders hemoglobin is produced by genes that control the expression of the hemoglobin protein. Hemoglobinopathies with thalassemia a hemoglobinopathy is a 8genetic defect that results in. Hemoglobinopathies hematologic evaluation cbc, retic count, peripheral smear, heinz bodies isoelectric focusing ief on agarose hplc cation exchange hplc hb quantitation reversed phase hplc globin chain separation special tests hb stability isopropanol, heat o2 affinity p50 molecular diagnostic methods. Hemoglobin a hba, normal adult hemoglobin, is the most common type. The hemoglobinopathies can be divided into two general types. Pdf type and frequency of hemoglobinopathies, diagnosed. It is an oxygenco 2 carrier protein present in the red blood corpuscles of blood.
A successful voluntary hemoglobinopathy screening program should have as its goals effective, accurate counseling, preventive medicine, and education. The types of haemoglobin throughout human life young. These hemoglobinopathies may either falsely raise or lower a1c results, depending on the variant and the assay method. Fetal hemoglobin hbf has two alpha and two gamma chains alpha 2. The major causes of mortality are iron overload and overwhelming infections following splenectomy. More than 5% of the worlds population is a carrier of a clinically important hemoglobin disorder. Hemoglobin is produced by genes that control the expression of the hemoglobin protein. The sickle cell trait appears to protect against severe forms of malaria. Another feature of the globin genes is the regulated developmental expression which occurs in a 5. Hemoglobinopathy is a term describing a number of inherited disorders involving.
Laboratory diagnosis of hemoglobinopathies and thalassemia. Hemoglobinopathies are a heterogeneous group of inherited disorders resulting from mutations in the globin genes. Hemoglobinopathies are a group of clinical disorders caused by genetic defects. The role of haemoglobin is rather similar to a delivery truck driver. Sickle cell disease and hemoglobinopathy screening in. Classification of the disorders of hemoglobin subject collection hemoglobin and its diseases clinical correlates hemoglobin variants. Introduction to hemoglobinopathies hemoglobin is a tetramer composed of two. Out of these 935 patients who had hemoglobinopathies, beta thalassemia minor 51.
Abnormal hemoglobins appear in one of three basic circumstances. There are four types categorized according to the severity of their effects on persons with thalassemia. Depending on the kind of defects provoked in hemoglobin components and mode of inheritance, clinical consequences may differ. Hemoglobin is a protein in the blood that carries oxygen from the lungs to all the tissues in the body. Hemoglobinopathies and hemoglobin a1c in diabetes mellitus. The presence of variant hemoglobin in moderate amounts may constitute a selective advantage in that it provides some. Hemoglobinopathy structural due to mutations in either alpha or beta globin structural substitution, addition or deletion of one or more aas in the globin chain.
The detection and follow up for hemoglobinopathies is a signi. Structural hemoglobinopathieshemoglobins with altered amino acid sequences eg. These countries are responsible for 89% of worldwide births. Techniques that detect only the presence of hemoglobin s would not allow these goals to be. Understand the pathophysiology of hemoglobinopathies. Hemoglobinopathy disorders memorial sloan kettering. Hemoglobinopathy genetic and rare diseases information. Hemoglobinopathies affect hemoglobin production and function and are usually inherited in an autosomal recessive pattern. Newborn screening tests the babys level of different types of hemoglobin. Over 330 000 affected infants are born annually 83% sickle cell, 17% thalassemia hemoglobin disorders account for 3. Explain why alphathalassemia has more variety than betathalassemia and explain the types of alphathalassemia that result from additional mutations of the alpha globin chains. Who is at higher risk of having a hemoglobinopathy. Varianthemoglobin disorders occur geographically throughout the old world in a beltlike area roughly the same as that of malaria.
One in 46 individuals in hawaii is a carrier for alpha thalassemia. Hemoglobin disorders hemoglobinopathies information for. The prevention of thalassemia antonio cao and yuet wai kan classification of the disorders of hemoglobin. Ppt hemoglobinopathies powerpoint presentation free to. Some wellknown hemoglobin variants such as sicklecell anemia and congenital dyserythropoietic anemia are responsible for diseases, and are considered hemoglobinopathies. Either hemoglobinopathy or thalassemia, or both, may cause anemia. Hemoglobinopathies monitoring means finding out the number of people with these conditions and how having a hemoglobinopathy affects their health, so that.
Epidemiology of hemoglobinopathies hemoglobin disorders constitute a significant health problem in more than 160 countries worldwide. Hemoglobinopathies is the medical term for a group of blood disorders and diseases that affect red blood cells. Hemoglobinopathies are the most common genetically inherited singlegene disorders in the world. High occurrence in underdeveloped nations such as arab nations, subsaharan region and. Hemoglobinopathies hematologic evaluation cbc, retic count, peripheral smear, heinz bodies isoelectric focusing ief on agarose hplc cation exchange hplc hb quantitation reversed phase hplc globin chain separation special tests hb stability isopropanol, heat. It can be a kind of genetic defect that results in abnormal structure of one of. Hemoglobinopathies and thalassemias remain a worldwide cause of morbidity and mortality.
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