No difference was seen in birthweight between the two groups. Recommend complete blood count cbc and hemoglobin evaluation using. Less commonly, the genotype may be double heterozygous traits of hemoglobin s with an uncommon hemoglobin trait such as hb d, hb oarab, or hemoglobin lepore. Hemoglobin d trait means that your child has inherited one gene for the usual hemoglobin a from one parent and one gene for hemoglobin d from the other parent. Now that your baby is known to have hemoglobin c trait, both you. Many people with hemoglobin e trait have no symptoms. However, many hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies, because they are not considered pathologies. One of the most common hemoglobinopathies is sickle hemoglobin hb s, which is responsible for the sickle cell disease and trait. Persons with hemoglobin c trait are also known as hemoglobin c carriers. Hemoglobin disorders include sickle cell disease, alpha thalassemia, and beta thalassemia prevalence of hgb carriers between 5% and 20% african american 10% with sickle cell trait newborn screening began testing in the 1970s utah began screening in 2001. People with hemoglobin e trait usually have no symptoms. This carrier state does not result in health problems, although. Many people in the united states who have a hemoglobinopathy heemuhglowbinopathee are aware that they have the condition.
Effects of hemoglobin c and s traits on eight glycohemoglobin. It underscores the need to use blood glucose levels rather than hba1c estimation in the diagnosis of diabetes. Hemoglobin lepore syndrome is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation. Most people do not know that they have hemoglobin c trait. Since your baby has hemoglobin c trait, this means that either you or your partner or both of you have hemoglobin c trait. The genetics of sickle cell anemia and related syndromes. But sometimes, as in your childs case, other hemoglobins are found which the screening program cannot identify. Your child will not need any medicine or treatment for s trait. These samples were retested using an immunoturbidimetric assay and the majority of results were accurate. If both parents have an abnormal hemoglobin trait, like. A recombinant human hemoglobin with antisickling properties greater than fetal hemoglobin dana n. Sickle trait and its association with birthweight and urinary. The hb lepore variant, consisting of two normal alpha globin chains hba and two deltabeta globin fusion chains which occurs due to a crossover between the delta hbd and beta globin hbb gene loci during meiosis and was first identified in the lepore.
Color atlas of hemoglobin disorders table of contents. This case documents hb nbaltimore as a cause of false hba 1c measurement in clinical medicine. Hemoglobin ctrait is not a sickness or a health problem. Hemoglobin variant reporting in newborn screening aphl. In almost all cases, only one of you will be a carrier.
Thalassemia is an inherited blood disorder that can be categorized by abnormal formation of hemoglobin. The same hemoglobin abnormality hbnbaltimore was recently described by clegg, naughton and weatherall3. Of patients who had a hemoglobin evaluation with no indication of alpha. In almost all cases, only one of you will have hemoglobin c trait. Hemoglobin s fact sheet 603 university of washington. In the remaining 4 samples hbd, hb louisville, hb las palmas, hb n baltimore, or hb porto alegre were identified and hba1c did not correlate with fpg. These different shapes depended on whether oxygen was present or absent, so he called the forms oxyhemoglobin and deoxyhemoglobin, respectively figure 5. Your child should have no health problems related to the hemoglobin c trait and will require no special medical care. The molecular nature of this hemoglobin variant is a substitution of valine for glutamic acid at the sixth amino acid position in the beta globin gene, which results in decreased solubility of hb, causing red cells to sickle suarez et al 1999. Fetal hemoglobin elevation in hb lepore heterozygotes and its.
Hemoglobinopathy evaluation in routine carrier testing. Effects of hemoglobin variants on hemoglobin a1c values. The patient subsequently discontinued all antidiabetic agents and remained in good glycemic control. Continued studies of the structural abnormality, to be described in this communication, have identified this hemoglobin type as being identi cal to hbnbaltimore, which was. To date, the child is annually followed up by the sickle cell disease scd clinical program, but no scd prophylactic. Hemoglobin e hbe disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin e. That means it is passed down through your parents genes. Hemoglobins n this group of 6 fast hemoglobins has electrophoretic mobility between hb j and hb h on cellulose acetate electrophoresis. Hemoglobin c disease texas department of state health services. Hb lepore is easily detected by electrophoretic and chromatographic studies.
There are no associated hematological abnormalities. You may have hemoglobin variant trait and not know it. Hemoglobin c hbc is a possible example in west africa, where this hemoglobin has a centric distribution with high frequencies among certain populations including the dogon ethnic group. The clinical phenotype of sickle cell disease most commonly has one of the following genotypes. Methods used in the evaluation of hemoglobinopathies. Hemoglobin disorders include sickle cell disease, alpha thalassemia, and beta. A small amount of hemoglobin barts 28% is transiently present in affected infants at birth and detectable in many newborn screening laboratories. Hb nbaltimore is the most prevalent n hemoglobin in african americans. We hypothesized that malian children with hemoglobin c trait would have a lower risk of clinical malaria than children with hemoglobin aa. If one parent has hemoglobin e trait and the other parent has normal hemoglobin a, there is a 50 percent 1 in 2 chance with each pregnancy of having a child with hemoglobin e trait. Hemoglobin hb variants may interfere with the hba1c assay and can cause an incorrect diagnosis andor inappropriate treatment. People with hemoglobin c disease usually do not have any serious health problems, but could have mild to moderate anemia and should be followed by a doctor.
Hemoglobin a1c hba1c levels have been linked to the development and progression. The abnormal hemoglobin leads to irregular oxygen transport and destruction of red blood cells. You may have heard of sickle cell trait before, while not exactly the same, sickle cell trait and hemoglobin variant trait are similar. Hemoglobin a 1c hba 1c testing is mainstay in screening, diagnosis, and management of diabetes mellitus. It is usual practice in our institution to confirm the hemoglobin s level in sickle cell disease. Effects of hemoglobin c and s traits on seven glycohemoglobin methods. First, the development of new technology, including xray crystallography and protein chemistry, that could be utilized in molecular biology studies catalyzed research. Hemoglobin c trait, like hemoglobin s trait, protects against severe malaria in children, but it is unclear whether hemoglobin c trait also protects against uncomplicated malaria. Hemoglobin c trait provides protection from clinical. Aabb technical manual of the american association of. Sickle trait was associated with a significant increase in bacteriuria. The objective of this retrospective case control study was to compare pregnant women with sickle trait hemoglobin to their normal hemoglobin counterparts.
Abnormally low hba1c secondary to hemoglobin jbaltimore beta. It occurs most often in people of southeast asian descent. Hemoglobin j bancock beta 56 glyasp and j baltimore beta 16. The implication of this phenomenon in patients with diabetes is obvious. These different shapes depended on whether oxygen was present or absent, so he called the forms oxy hemoglobin and deoxy hemoglobin, respectively figure 5. Hemoglobin d trait is not a disease and does not cause any health problems. In spain only hb lepore boston and hb lepore baltimore have been identified. If hemoglobin d does not cause any health problems, why do i need to know that my child has it. Hemoglobin e hbe is an abnormal hemoglobin with a single point mutation in the. Hemoglobin d trait information for parents about hemoglobin d. Hemoglobin c trait is harmless you do not have the disease you are just a carrier of hemoglobin c. When both parents have c trait, each baby has a 1 in 4 chance of inheriting hemoglobin c disease. Interference of hemoglobin nbaltimore on measurement of hba1c. This hemoglobin type, designated as hbjenkins, was found to be abnormal in the fl polypeptide chain1.
To test whether hbc is associated with protection from malaria, we performed a casecontrol study in the dogon of bandiagara, mali. Hemoglobin ctrait means a persons body makes something different that shows up in the part of blood called hemoglobin hemoglowbin. If both parents have hemoglobin c trait, there is a 1 in 4 25% chance with each pregnancy that the child would have hemoglobin c disease. Hemoglobin e trait is caused by a gene defect and is rare. These include hemoglobin c, hemoglobin e, hemoglobin d, and hemoglobin g.
Interpreting hemoglobin a1c in african americans with sickle. Feb 23, 2015 hemoglobin hb variants may interfere with the hba1c assay and can cause an incorrect diagnosis andor inappropriate treatment. Fas in infants and as in adults commonly known as sickle cell trait, hemoglobin s trait results when the gene for hemoglobin s is inherited from one parent and a hemoglobin a gene from the other. It happens most often among people with a thai, cambodian, vietnamese, or laotian background. Townes1 1department of biochemistry and molecular genetics, schools of medicine and dentistry. Hemoglobin variants are a part of the normal embryonic and fetal development, but may also be pathologic mutant forms of hemoglobin in a population, caused. This is because routine testing of all newborns for some of the hemoglobinopathies is performed by the statebased newborn screening nbs programs. Hemoglobin s trait, also know as sickle cell trait, means that your child has inherited one gene for the usual hemoglobin a from one parent and one gene for hemoglobin s from the other parent. These are the possible outcomes with each pregnancy.
Hemoglobin s or sickle cell trait is very common and does not cause any health problems. In the remaining 4 samples hbd, hb louisville, hb las palmas, hb nbaltimore, or hb porto alegre were identified and hba1c did not correlate with fpg. At position 26 there is a change in the amino acid, from glutamic acid to lysine e26k. If you inherited the hemoglobin e mutation from just 1 of your parents, you typically wont have any symptoms. A hemoglobin electrophoretic pattern showing the majority of the hemoglobin migrating as sickle cell hemoglobin cannot be accepted as proof that the person has sickle cell anemia. Hemoglobin s trait information for parents about hemoglobin s. Hemoglobin c hb c has a substitution of lysine for glutamic acid in the sixth position of the beta globin chain. The history and findings are typical of hb h disease, usually due to the. Here we report 2 type 2 diabetes cases who are known to carry the hb nbaltimore variant 2 and whose hba1c values were low. Hemoglobin variant trait is common and can occur in any. Hemoglobin e disease genetic and rare diseases information. If one parent has hemoglobin c trait and the other parent has normal hemoglobin, there is a 50 percent 1 in 2 chance with each pregnancy of having a child with hemoglobin c trait. Here we report 2 type 2 diabetes cases who are known to carry the hb n baltimore variant and whose hba1c values were low.
In the mid1900s, many factors prompted hemoglobin research in baltimore, maryland and ultimately led to the discovery of hemoglobin hopkins2. There are also 2 examples of sickle cell trait on this plate. A recombinant human hemoglobin with antisickling properties. Both hemoglobin d trait and hemoglobin g trait are common and do not cause health problems.
Alpha thalassemia trait athal1 is a common cause of microcytosis in black and asian populations. Hemoglobin j bancock beta 56 glyasp and j baltimore beta 16 glyasp have been described in combination with sickle hemoglobin. If a child has hemoglobin c disease, both parents have hemoglobin c trait. It leads to an abnormal form of hemoglobin that may cause mild anemia. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms.
It can also happen in people of turkish, asiatic indian, chinese, and filipino descent. Hemoglobin variant trait is not a disease, and usually has no symptoms. Hb x is one of the fastest moving beta chain variants. There are no associated hematological abnormalities and counseling is not indicated. Patients with thalassemia make less hemoglobin and have fewer circulating erythrocytes than normal, leading to mild or severe anemia. Oct 01, 2000 hemoglobin c hbc is a possible example in west africa, where this hemoglobin has a centric distribution with high frequencies among certain populations including the dogon ethnic group. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Having a trait for an unknown hemoglobin is not a disease. Now that your baby is known to have hemoglobin e trait, both you and your partner have the option of being. Since your baby has hemoglobin e trait, this means that either you or your partner or both of you have hemoglobin e trait. Hb c occurs in higher frequency in individuals with heritage from western africa, italy, greece, turkey, and the middle east. This case documents hb n baltimore as a cause of false hba1c measurement in clinical medicine.
Studies of two hbc compound heterozygotes, hbchb nbaltimore. Normally, hemoglobin e trait does not cause any health problems. A fast hemoglobin variant on newborn screening is associated. Hba1c anormalmente disminuida secundaria a hemoglobina jbaltimore beta 16a glyasp. To date, more than disorders of hemoglobin synthesis andor struc ture have been identified. Hb x and hb a separate by both cation and anion exchange chromatography.
The short name often includes abbreviations and acronyms. Your babys test found that your baby has either hemoglobin d trait or hemoglobin g trait. Characterization of chromosomes with hybrid genes for hb. Review how hemoglobin c trait, hemoglobin c disease, and hemoglobin sc disease are inherited. An acquired hemoglobin j variant in a sickle cell disease. Statebased select hemoglobinopathies monitoring cdc. Most people with hemoglobin e disease will live a healthy, normal life. The implication of this phenomenon in patients with. Effects of hemoglobin c and s traits on eight glycohemoglobin methods article in clinical chemistry 482. Most people do not know that they have hemoglobin e trait. Hemoglobin c associated with protection from severe malaria. The electrophoretic mobilities in starch gel electrophoresis of the two hemoglobin abnormalities were identical and also provide evidence for the replacement of the lysyl residue by a glutamyl residue rather than by a glutaminyl residue. Continued studies of the structural abnormality, to be described in this communication, have identified this hemoglobin type as being identi cal to hb n baltimore, which was recently identified as 2fl,95h ref.
Hgb41 no disease, hemoglobin s trait sickle trait hgb42 no disease, hemoglobin c trait hgb43 no disease, hemoglobin d trait hgb46 no disease, hemoglobin e trait hgb47 no disease, hemoglobin other variant trait hgb48 no disease, alpha thalassemia trait hematology followup. This case documents hb n baltimore as a cause of false hba 1c measurement in clinical medicine. An acquired hemoglobin j variant in a sickle cell disease patient. Hemoglobin c trait occurs in 23% of all african americans. Thalassemia syndromes state anemia hgb ahgb a hgb ahgb a 2 hgb fhgb f normal none normal normal normal. If hemoglobin c trait is found, education and counseling regarding the trait are. My mothers side of the family is german origin, seven siblings of my grandmother have all but one suffered strokes, high blood pressure, leg ulcers, thrombosis etc. Hemoglobin e trait health encyclopedia university of. Pdf identification of hb lepore phenotype by hplc researchgate. The newborn screening test cannot tell the difference between hemoglobin d and hemoglobin g so we do not know which one your baby has. Hemoglobin e is very common among people of southeast asian, northeast indian, sri lankan and bangladeshi descent. Interference of hemoglobin nbaltimore on measurement of. This study concerns the characterization of chromosomes with hybrid genes for hb leporewashington 44 chromosomes, for hb leporebaltimore 5 chromosomes, for hb pnilotic 8 chromosomes, and for hb kenya 7 chromosomes by determining a relatively large number of restriction enzyme polymorphism.