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 of the condition. Mild hemoglobinopathies may require no medical treatment. However, when severe cases are left untreated, they can cause a shortage of red blood cells (anemia), organ damage or even death. Fortunately, when severe hemoglobinopathies are identified and treated early in life, affected children often can lead healthy lives. Your baby’s doctor may ask you if your baby is showing any of the signs of a hemoglobinopathy (see Early Signs below). If your baby has certain signs, your baby’s doctor may need to treat him or her immediately. If your baby’s It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An Follow-up testing will involve testing a blood sample. If your child has a hemoglobinopathy, he or she may have abnormally-shaped red blood About Hemoglobinopathies The severity of conditions classified as “various other hemoglobinopathies” varies. 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. Early signs of a hemoglobinopathy include: • Sleeping ...

Penicillin Prophylaxis is indicated• FS Presumed sickle cell disease • FSC, FCS Presumed sickle-hemoglobin C disease • FSE Presumed sickle-hemoglobin E disease • FSA Presumed sickle-β+-thalassemia • Steps: • Contact parent/guardian to check on the health of the infant, and to explain these results. • Physicians please refer to attached newborn screening information sheet for interpretation of results. • Send whole blood for confirmatory electrophoresis at 2-3 months of age. Please fax a copy of the results to health department at 501-682-6686. • Penicillin prophylaxis should be started no later than 2 months of age. • It is recommended that primary care physicians refer infants to the Arkansas Children's Hospital Comprehensive Sickle Cell Clinic. Please call 364-1076 to set up an appointment. No Antibiotic Prophylaxis is indicated.• FC Presumed hemoglobin C disease • FCA Presumed hemoglobin C-β+-thalassemia • FE Presumed hemoglobin E disease • F Fetal hemoglobin only - inconclusive • Steps: • Contact parent/guardian to check on the health of the infant, and to explain these results. • Refer to attached newborn screening information sheet for interpretation of results. • Send whole blood for confirmatory electrophoresis at 2-3 months of age. Please fax a copy of the results to health department at 501-682-6686. • It is recommended that primary care physicians refer infants to the Arkansas Children's Hospital Comprehensive Sickle Cell Clinic. Please call 364-1076 to set up a...

A hemoglobin disorder or hemoglobinopathy is an inherited blood disorder in which there is an abnormal form of hemoglobin (variant) or decreased production of hemoglobin (thalassemia). A hemoglobinopathy evaluation is a group of tests that determines the presence and relative amounts of abnormal forms of hemoglobin in order to screen for and/or diagnose a hemoglobin disorder. Hemoglobin (Hb) is the protein in red blood cells (RBCs) that binds to oxygen in the lungs and allows RBCs to carry the oxygen throughout the body, delivering it to the body’s cells and tissues. Hemoglobin consists of one portion called heme, which is the molecule with iron at the center, and another portion made up of four globin (protein) chains. Depending on their structure, the globin chains, depending on their structure, have different designations: alpha, beta, gamma, and delta. The types of globin chains that are present are important in the function of hemoglobin and its ability to transport oxygen. Normal hemoglobin types include: • Hemoglobin A: makes up about 95%-98% of Hb found in adults; it contains two alpha and two beta protein chains. • Hemoglobin A2: makes up about 2%-3% of Hb in adults; it has two alpha and two delta protein chains. • Hemoglobin F (fetal hemoglobin): makes up to 1%-2% of Hb found in adults; it has two alpha and two gamma protein chains. This is the primary hemoglobin produced by the fetus during pregnancy; its production usually falls shortly after birth and reaches ...

This consultative study is primarily designed for the evaluation of microcytosis but also has the ability to test for the detection of almost all known hemoglobin disorders in an economical manner. Because this can include multiple tests for alpha-thalassemias, beta-thalassemias, delta-beta-thalassemia, hereditary persistence of fetal hemoglobin (HPFH), and for all known hemoglobin (Hb) variants, an expert in these disorders can guide testing to explain the clinical question or reported complete blood count values. This evaluation is particularly useful for complete classification of compound combinations of Hb S with alpha- or beta-thalassemia, Hb E/beta-0-thalassemia, and many other complex alpha and beta thalassemia disorders. Since iron deficiency can mimic thalassemias, ferritin levels are measured to evaluate this possibility, if a serum sample is received. Hb disorders include those associated with thalassemias (decreased protein quantity) and Hb variants (abnormal protein production). Many are clinically harmless and others cause symptoms including microcytosis, sickling disorders, hemolysis, erythrocytosis, cyanosis/hypoxia, long-standing or familial anemia, compensated or episodic anemia, and increased methemoglobin or sulfhemoglobin results. Hb disorders can show patterns of either autosomal recessive or autosomal dominant inheritance. The thalassemias are a group of disorders of Hb synthesis. Normal adult Hb consists of 2 alpha globin chains (encoded by 2 pairs...

Hemoglobin type is inherited. Hemoglobin A (HbA), normal adult hemoglobin,is the most common type. More than 700 forms of hemoglobinopathy or abnormal hemoglobin variants have been reported; sickle cell (HbS) is the most frequently occurring hemoglobin variant in the United States population. 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. 1) altering the normal process of glycation of HbA to A1C, 2) causing an abnormal peak on chromatography, making estimation of A1C unreliable, and 3) making the red blood cell more prone to hemolysis, thereby decreasing the time for glycosylation to occur and producing a falsely low A1C result. S.D. is an 11-year-old African-American girl newly diagnosed with type 1 diabetes. She returns today for her first outpatient follow-up visit since hospitalization for diabetic ketoacidosis 2 weeks ago. She comes accompanied by her maternal aunt, who has legal custody of S.D. At the time of hospitalization, S.D. was also diagnosed with Hashimoto's thyroiditis and started on treatment with 100 μg/day thyroxine. She was discharged from the hospital on a two-injection-per-day regimen of short- and intermediate-acting insulins (0.79 units/kg/day). She has regained 12 lb since hospital discharge. S.D. appears to be adjusting to her new diagnosis. She wears a medic alert bracelet and states that she is independ...