Hemoglobinopathies is the medical term for a group of blood disorders and diseases that affect red blood cells. These disorders include both sickle cell disease (SCD) and thalassemia.
What level of hemoglobin is dangerously low?
What is a dangerously low level of hemoglobin? If it gets more severe and causes symptoms, your low hemoglobin count may indicate you have anemia. A low hemoglobin count is generally defined as less than 13.5 grams of hemoglobin per deciliter (135 grams per liter) of blood for men and less than 12 grams per deciliter (120 grams per liter) for women.
What is a normal hemoglobin level?
Your hemoglobin level can be measured with a complete blood count (CBC). According to the American Red Cross, a normal hemoglobin level is 13.5–17.5 grams per deciliter (g/dL) for males and 12–15.5 g/dL for females. 1 The standard values can vary between different laboratories.
What happens when your hemoglobin is too low?
You may have prescribed to perform the test if you have these symptoms:
- Shortness of Breathe
- Chronic fatigue
- Energy deprivation
- Fast heartbeat
- Pale skin, nails and gums
What does it mean when your hemoglobin is high?
What Does It Mean When Your Hemoglobin Level Is High? A high hemoglobin level indicates long-term hypoxia or low blood oxygen levels, explains MedlinePlus.
What are examples of hemoglobinopathies?
Types of hemoglobinopathies include the following, with the predominant type of abnormal hemoglobin in parentheses following the disorder.sickle cell disease (HbS)sickle cell trait (HbAS)sickle cell-hemoglobin C (HbSC)sickle cell-thalassemia (HbS and HbA)thalassemia. ... hemoglobin C disease (HbCC)More items...•
What are the most common hemoglobinopathies?
The most common hemoglobinopathies include the thalassemias (alpha- and beta-) and sickle cell disease (SCD), but hundreds of abnormalities in the globin genes have been described. The diagnosis of hemoglobinopathies requires clear understanding of the genetics and structure of the globin chains and Hb.
What are the two types of hemoglobinopathies?
Results. The hemoglobinopathies encompass all genetic diseases of hemoglobin. They fall into two main groups: thalassemia syndromes and structural hemoglobin variants (abnormal hemoglobins). α- and β-thalassemia are the main types of thalassemia; the main structural hemoglobin variants are HbS, HbE and HbC.
What does hemoglobinopathies mean?
Executive Summary. The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule. Sickle cell disease (SCD) is one such blood disorder caused by the abnormal hemoglobin that damages and deforms red blood cells.
How many hemoglobinopathies are there?
There are two main groups: abnormal structural hemoglobin variants caused by mutations in the hemoglobin genes, and the thalassemias, which are caused by an underproduction of otherwise normal hemoglobin molecules. The main structural hemoglobin variants are HbS, HbE and HbC.
What disease causes low hemoglobin?
Diseases and conditions that cause your body to produce fewer red blood cells than normal include:Aplastic anemia.Cancer.Certain medications, such as antiretroviral drugs for HIV infection and chemotherapy drugs for cancer and other conditions.Chronic kidney disease.Cirrhosis.Hodgkin's lymphoma (Hodgkin's disease)More items...
What are the 4 types of hemoglobin?
In adults, these are normal percentages of different hemoglobin molecules:HbA: 95% to 98% (0.95 to 0.98)HbA2: 2% to 3% (0.02 to 0.03)HbE: Absent.HbF: 0.8% to 2% (0.008 to 0.02)HbS: Absent.HbC: Absent.
What are the 5 hemoglobin variants?
From the several hemoglobin variants that have been described, hemoglobin S (Hb S), C (Hb C), E (Hb E), beta and alpha-thalassemia have been some of the most common hemoglobin variants found in Latin American Countries. Hemoglobin S, (or sickle cell trait) has been one of the most studied hemoglobin variants.
Is sickle cell A Haemoglobinopathy?
Sickle cell disease (SCD) is the most common inherited hemoglobinopathy worldwide. It results from a single-nucleotide substitution that leads to a propensity toward hemoglobin polymerization and sickling of red blood cells.
Which of the following blood disorders are hemoglobinopathies?
Sickle Cell Disease (SCD), including Sickle Cell Anemia. Sickle cell disease (SCD), an umbrella group of hemoglobinopathies that includes sickle cell anemia, is an inherited disorder caused by an abnormal form of a protein called beta-globin.
How do you test for hemoglobinopathies?
A hemoglobinopathy evaluation typically involves tests that determine the types and amounts of hemoglobin. Information from these tests, along with results from routine tests such as a complete blood count (CBC) and blood smear, aid in establishing a diagnosis.
What is Haemoglobinopathy blood test?
A haemoglobinopathy evaluation is used to detect abnormal forms and/or relative amounts of haemoglobin, the protein found in all red blood cells that transports oxygen. Testing may be used for: Screening. All newborns are screened for certain hemoglobin variants.
Is sickle cell A Haemoglobinopathy?
Sickle cell disease (SCD) is the most common inherited hemoglobinopathy worldwide. It results from a single-nucleotide substitution that leads to a propensity toward hemoglobin polymerization and sickling of red blood cells.
Is haemophilia A hemoglobinopathy?
Hemoglobinopathies (hemophilia & thalassemia) are genetic blood related disorders that affect the production or the structure of the hemoglobin molecules. Management of hemoglobinopathies requires a complete ecosystem of management from administration to treatment.
Is G6PD a hemoglobinopathy?
Moreover, Glucose 6 phosphate dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate.
Is sickle cell A thalassemia?
Summary. "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease.
Where are hemoglobinopathies found?
They were originally found mainly in the Mediterranean area and large parts of Asia and Africa (3) .
What are the two main groups of hemoglobinopathies?
The hemoglobinopathies encompass all genetic diseases of hemoglobin. They fall into two main groups: thalassemia syndromes and structural hemoglobin variants (abnormal hemoglobins). α- and β-thalassemia are the main types of thalassemia; the main structural hemoglobin variants are HbS, HbE and HbC. There are many subtypes ...
What are the two main groups of thalassemia?
The two main groups are thalassemia syndromes and structural Hb variants (abnormal hemoglobins). The main types of thalassemia are α- and β-thalassemia. The main types of abnormal hemoglobin are HbS, HbE, and HbC. Within these main types there are several subtypes, with differing disease patterns.
How does hemoglobinopathy affect pregnancy?
Hemoglobinopathies significantly complicate pregnancy, and increase the risk of infant mortality.
What are the four amino acids in hemoglobin?
Description. The hemoglobin molecule is composed of four separate polypeptide chains of amino acids, two alpha chains and two beta chains, as well as four iron-bearing heme groups that bind oxygen. The alpha chains are coded for by two similar genes on chromosome 16; the beta chains by a single gene on chromosome 11.
Why do we screen for sickle cell anemia at birth?
Many countries, including the United States, have made concerted efforts to screen for sickle cell anemia at birth because of the potential for beginning early treatment and counseling parents about their carrier status. Diagnosis is traditionally made by blood tests including hemoglobin electrophoresis.
What are the symptoms of a sickle shaped cell?
This obstruction results in symptoms including growth retardation, severe pain crises, tissue and organ damage, splenomegaly, and strokes.
Is sickle cell disease a genetic disorder?
Sickle cell anemia ( sickle cell disease) is the prime example of the former, and the group of disorders known as the thalassemias constitute the latter. It has been estimated that one third of a million people worldwide are seriously affected by one of these genetic disorders.
Which compound in the blood carries oxygen to the cells and carries carbon dioxide away from the cells?
Hemoglobin— Protein-iron compound in the blood that carries oxygen to the cells and carries carbon dioxide away from the cells.
Is hemoglobinopathy a lifelong disease?
Hemoglobinopathies are life-long disorders. The prognosis depends upon the exact nature of the mutation, the availability of effective treatment, as well as the individual's compliance with therapies. Hemoglobinopathies significantly complicate pregnancy, and increase the risk of infant mortality.
What is the alphabetical order of hemoglobins?
Different hemoglobins, as distinguished by electrophoretic mobility, are alphabetically designated in order of discovery (eg, A, B, C), although the first abnormal hemoglobin to be identified, sickle cell hemoglobin, was designated hemoglobin S.
What is the standard description of a patient's hemoglobin composition?
Standard description of a patient’s hemoglobin composition places the hemoglobin of greatest concentration first (eg, AS in sickle cell trait). The normal adult hemoglobin molecule (Hb A) consists of 2 pairs of chains designated alpha and beta.
What is the genetic disorder that affects the structure of the hemoglobin molecule?
Hemoglobinopathies are genetic disorders affecting the structure or production of the hemoglobin molecule.
What causes anemia in the US?
In the US, important anemias are caused by genetic mutations resulting in sickle cell disease (Hb S disease) or Hb C disease and the thalassemias. Immigration of people of Southeast Asian descent has made Hb E disease common. NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version.
What is the normal hemoglobin level in adult blood?
Normal adult blood also contains ≤ 2.5% hemoglobin A2 (composed of alpha and delta chains) and < 1.4 % hemoglobin F (fetal hemoglobin, composed of alpha and gamma chains—see also Hemoglobinopathies in Pregnancy ).
What causes thrombosis?
Thrombotic disorders can be caused by genetic defects, which increase the risk of venous thromboembolism, or acquired defects , which increase the risk of arterial and venous thrombosis. Of the acquired causes, which of the following is most likely to increase a patient’s risk of venous thrombosis?
Can hemoglobinopathies cause anemia?
Some hemoglobinopathies result in anemias that are severe in patients who are homozygous but mild in those who are heterozygous. Some patients are compound heterozygotes for 2 different hemoglobinopathies and have anemia of varying severity.
How does hemoglobinopathy work?
This means that a child must inherit To receive from one's parents by genetic transmission two copies of the non-working gene The instructions inside each cell. They control how a baby will look and how his or her body works. Everyone has slightly different genes, so everyone has a slightly different set of instructions. for a hemoglobinopathy, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with a hemoglobinopathy is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.
When do hemoglobinopathies start?
Some children experience severe signs while others have no signs of the condition at all. Signs of severe hemoglobinopathies usually start soon after birth. In some cases, signs may not appear until childhood.
What is the name of the condition where a baby has a low number of red blood cells?
and/or anemia , which is a low number of red blood cells. Measuring the number of red blood cells in a sample and looking at the shape of these cells can help doctors determine if your baby has a condition. Clinical genetic testing for various hemoglobinopathies may be necessary to confirm the diagnosis.
Why do we need follow up testing for hemoglobinopathies?
Because signs of severe hemoglobinopathies can develop shortly after birth, follow-up testing. The more precise, diagnostic testing done after the initial newborn screening results appear abnormal or inconclusive. Follow-up testing confirms if a baby has a condition or not .
Why do babies with hemoglobinopathies need to be hydrated?
Babies with hemoglobinopathies need to make sure they get plenty of fluids because dehydration can increase the pain associated with these disorders.
What are the conditions that affect the number or shape of the red blood cells in the body?
Conditions Hemoglobinopathies. Hemoglobinopathies. Hemoglobinopathies are inherited conditions that affect the number or shape of the red blood cells in the body. These conditions can be very different from one another. Some hemoglobinopathies can cause life-threatening symptoms, while others do not cause medical problems or even signs ...
Why do children with hemoglobinopathies need blood transfusions?
Some children with hemoglobinopathies may need a blood transfusion because they do not have enough healthy red blood cells. In this procedure, blood from a healthy individual is given to someone with a hemoglobinopathy.
What is the disease of hemoglobinopathies?
Sickle cell disease (SCD) is one such blood disorder caused by the abnormal hemoglobin that damages and deforms red blood cells. The abnormal red cells break down, causing anemia, and obstruct blood vessels, leading to recurrent episodes of severe pain and multi-organ ischemic damage. SCD affects millions of people throughout the world and is particularly common among people whose ancestors come from sub-Saharan Africa, regions in the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece and Italy. There is no widely available cure for SCD although some children have been successfully treated with blood stem cell, or bone marrow, transplants.1 However, hematopoietic stem cell transplant is not widely done for SCD, because of the difficulty in finding a matched donor. Therefore, the number of people with SCD who get transplants is low. In addition, there are several complications associated with the procedure, including death in about 5 percent of people. In SCD, clinical severity varies, ranging from mild and sometimes asymptomatic states to severe symptoms requiring hospitalization. Symptomatic treatments exist, and newborn screening (NBS) for SCD can reduce the burden of the disease on affected newborns and children.
What is hemoglobin derived from?
Hemoglobin is a tetramer composed of two α-globin and two non- α -globin chains working in conjunction with heme to transport oxygen in the blood.2,3 Normal adult hemoglobin (HbA) is designated αA2βA2.2,3 Variant hemoglobin is derived from gene abnormalities affecting the α-globin genes (HBA1 or HBA2) or β-globin (HBB) structural genes (exons).2,3,4 More than a thousand hemoglobin variants have been identified relative to changes in the globin chains.3 Qualitative changes correspond to amino acid substitutions resulting in hemoglobinopathies. Quantitative changes like amino acid insertions, deletions or mutations in the intervening sequences (introns) correspond to thalassemia and result in decreased globin chain production.2,3,4
What is the name of the disorder in which the hemoglobin molecule is abnormal?
The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule. Sickle cell disease (SCD) is one such blood disorder caused by the abnormal hemoglobin that damages and deforms red blood cells.
What is the APHL hemoglobinopathy lab?
The Association of Public Health Laboratories gratefully acknowledges the contributions of the APHL Hemoglobinopathy Laboratory Workgroup, experts and partners at the Newborn Screening and Molecular Biology Branch, National Center for Environmental Health and the Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities.
How are hemoglobins separated in HPLC?
Hemoglobins are separated by an analytical cartridge in cation exchange HPLC using a preprogrammed buffer gradient with increasing ionic strength to the cartridge (Figure 3). The hemoglobin fractions separate based on their ionic interaction with the cartridge.26The separated fractions pass through a flow cell, where absorbance is measured at 415 nm and again at 690 nm to reduce background noise. Changes in absorbance are monitored over time producing a chromatogram (absorbance vs. time). Each hemoglobin has its own characteristic retention time and is measured from the time of sample injection into the HPLC to the maximum point of each peak. Identification of unknown hemoglobin is achieved through comparison with known hemoglobin retention times.27 If a peak elutes at a retention time not predetermined, it is labeled as an unknown. HPLC achieves good separation and quantitation of HbF and HbA
What is used to screen for hemoglobinopathy?
As it pertains to screening techniques, laboratories originally used citrate agar electrophoresis for screening of abnormal hemoglobins in cord blood. The subsequent improvement in the hemoglobinopathy electrophoretic techniques, made it possible to screen newborns by using either cord blood or heel stick samples (dried blood spots). Currently, the majority of hemoglobinopathy screening programs use a combination of isoelectric focusing (IEF) and high performance liquid chromatography (HPLC) as primary screening methods (Table 1). Many programs use second complimentary electrophoretic technique, HPLC, immunologic tests or DNA- based assays to confirm specimens with abnormal screening results.13See Table 1 for a distribution of laboratories versus methods utilized. Most of the current screening methodologies are sensitive and specific in detecting high risk infants; however, each method has its own unique limitations.
Can hematopoietic stem cells cure SCD?
There is no widely available cure for SCD although some children have been successfully treated with blood stem cell, or bone marrow, transplants.1However, hematopoietic stem cell transplant is not widely done for SCD, because of the difficulty in finding a matched donor.
