TALASEMIA BETA HEMOGLOBIN E

2016 ◽  
Vol 22 (1) ◽  
pp. 309
Author(s):  
Viviyanti Zainuddin ◽  
Agus Alim Abdullah ◽  
Mansyur Arif
Keyword(s):  
Clinical Manifestations ◽  
Iron Chelation ◽  
Hypochromic Anemia ◽  
Peripheral Blood Smear ◽  
Beta Thalassemia ◽  
Hemoglobin Variant ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
Polypeptide Chains ◽  
Additional Therapy

Thalassemia is a quantitative abnormality of the hemoglobin marked by inadequate hemoglobin synthesis due to the lack or absence of synthesis of one or more globin polypeptide chains. Hemoglobin variant is a qualitative abnormality due to the presence of the abnormal amino acid sequence of one or more globin polypeptide chains. HbE β thalassemia is a disorder of hemoglobin that results from the fusion between the gene β-thalassemia allele from one parent with a gene HbE allele from another parent. In this case, HbE β-Thalassemia patient was a 4.8 year girl diagnosed with hemoglobin E-beta thalassemia based on history and clinical manifestations; pale, the presence of splenomegaly and hepatomegaly. Laboratory tests were Hb: 7.7 g/dL, MCV: 52.9 fl, MCH: 17.7 pg, MCHC: 33.5 g/dL and ferritin: 1012 ng/mL. Peripheral blood smear evaluation showed a microcytic hypochromic anemia with hemolytic signs andinfected features of leukocytes. Hb electrophoresis using HPLC showed a Hb F: 37.7% and HbA2 52.4%, indicating that HbA2 was false high due to coeluating with HbE. The patient was treated by blood transfusion and received additional therapy such as folic acid, iron chelation and vitamin E

scholarly journals TALASEMIA BETA HEMOGLOBIN E (Hemoglobin E Beta Thalassemia)

2018 ◽  
Vol 21 (3) ◽  
pp. 309
Author(s):  
Viviyanti Zainuddin ◽  
Agus Alim Abdullah ◽  
Mansyur Arif
Keyword(s):  
Laboratory Tests ◽  
Clinical Manifestations ◽  
Hypochromic Anemia ◽  
Peripheral Blood Smear ◽  
Beta Thalassemia ◽  
Hemoglobin Variant ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
Polypeptide Chains ◽  
Additional Therapy

Thalassemia is a quantitative abnormality of the hemoglobin marked by inadequate hemoglobin synthesis due to the lack orabsence of synthesis of one or more globin polypeptide chains. Hemoglobin variant is a qualitative abnormality due to the presence ofthe abnormal amino acid sequence of one or more globin polypeptide chains. HbE β thalassemia is a disorder of hemoglobin that resultsfrom the fusion between the gene β-thalassemia allele from one parent with a gene HbE allele from another parent. In this case, HbEβ-Thalassemia patient was a 4.8 year girl diagnosed with hemoglobin E-beta thalassemia based on history and clinical manifestations;pale, the presence of splenomegaly and hepatomegaly. Laboratory tests were Hb: 7.7 g/dL, MCV: 52.9 fl, MCH: 17.7 pg, MCHC: 33.5g/dL and ferritin: 1012 ng/mL. Peripheral blood smear evaluation showed a microcytic hypochromic anemia with hemolytic signs andinfected features of leukocytes. Hb electrophoresis using HPLC showed a Hb F: 37.7% and HbA2 52.4%, indicating that HbA2 was falsehigh due to coeluating with HbE. The patient was treated by blood transfusion and received additional therapy such as folic acid, ironchelation and vitamin E.

scholarly journals Genetic Mutation of Hb E/beta Thalassemia Patient in Bangladesh and Its Relation With Clinical Severity

2021 ◽  
Author(s):  
Nishat Mahzabin ◽  
Md. Abdul Aziz ◽  
Md. Akhlak-Ul Islam ◽  
Nusrat Jahan ◽  
Md. Kamrul Hasan Sajib ◽  
...  
Keyword(s):  
High Performance ◽  
Mutational Analysis ◽  
Severe Disease ◽  
Genetic Mutation ◽  
Clinical Severity ◽  
Beta Thalassemia ◽  
Thalassemia Patient ◽  
Cross Sectional ◽  
Hemoglobin E ◽  
Hb E

Abstract Background: Hemoglobin E/β-thalassemia is a common inherited hemoglobin disorder among South Asian countries. The phenotypically diverse presentation of the disease is often attributed to coinheritance of β-globin (HBB) gene mutations. The current study described the phenotype and genetic basis of Hb E/β-thalassemia patients and assessed its relation with clinical severity.Methods: A total of 32 patients were included in this cross-sectional study. Cases were confirmed by using capillary hemoglobin electrophoresis or high-performance liquid chromatography. Those with positive findings were further analyzed with clinical information and ancestral data either from the interview or medical records. Data collection was confined to May 2019 and July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.Result: A total of 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (n=17, 53.1%) was the most common, and codon 30 (G>C) (n=4, 12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% (n=12) were classified as phenotypically mild, 43.8% (n=14) as moderate and 18.8% (n=6) as severe. The IVS-1-5(G>C) mutation was found to be frequently associated with severe disease and showed no mild form.Conclusion: The present study described the clinical severity and its association with genetic mutations in hemoglobin E/β-thalassemia patients. This finding could guide individually tailored management strategies for this particular group of patients.

scholarly journals Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta+-thalassemia intermedia associated with delta degree- thalassemia

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 957-961
Author(s):  
F Baklouti ◽  
E Dorleac ◽  
L Morle ◽  
P Laselve ◽  
D Peyramond ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Low Oxygen ◽  
Hemoglobin Variant ◽  
New Variety ◽  
Whole Cells ◽  
Chain Synthesis ◽  
Low Oxygen Affinity

Abstract Hb Knossos (beta 27 (B9) Ala----Ser) is a recently discovered hemoglobin variant endowed with beta-thalassemic properties (1,2) We present the first homozygous cases. The propositus, a 19-year-old man is originally from northeast Algeria, but is unrelated to other Algerians who have hemoglobin Knossos. He has a beta+-thalassemia intermedia syndrome, including microcytic, hypochromic anemia, enlargement of the spleen, and an increase in the number of reticulocytes. The reduction of beta-chain synthesis is pronounced (alpha/non alpha:2.76). Whole cells containing Hb Knossos have a dramatically low oxygen affinity (P50:38 mm Hg). The propositus also has homozygous delta degrees-thalassemia. The chromosome carrying these mutations is characterized by the DNA haplotype I.

scholarly journals Clinical Profile of Thalassemia Syndrome in Children of Northern Bangladesh

2019 ◽  
Vol 31 (2) ◽  
pp. 6-11
Author(s):  
Md Rustam Ali ◽  
Md Iqbal Bari ◽  
Md Sanaul Haque Mia ◽  
Md Khalilur Rahman ◽  
Md Farid Hossain ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Standard Procedure ◽  
Iron Chelation ◽  
Hemoglobin Concentration ◽  
Folic Acid Supplementation ◽  
Beta Thalassemia ◽  
Low Grade ◽  
Thalassemia Patient ◽  
Racial Background ◽  
Hb E

Background: Thalassemia is a common hematological disorder in our country having wide spectrum of clinical presentation. The frequency and severity of the several types of thalassemia depend on the racial background of the population. Hb-E Beta thalassemia is prevalent in our country. Objective: To see the clinical features of different types of Thalassemia in northern area of Bangladesh. Methods: Hundred cases were selected from Thalassemia patient admitted in department of pediatrics, on May 2012 to October 2012. A prescribed questionnaire was used to record the information. The methods were explained to the patients and consent was taken. Necessary physical examination was performed and investigations were done. The data was analyzed by standard procedure. Results: Out of hundred (100) cases, most (61%) were Hb-E beta Thalassemia, less common (1%) was Hb-E disease, and 1 % case was Hb-E trait. Majority (64%) manifested clinically under one year of age. 54% were male and 46% were female. The major presenting symptom was progressive pallor in 70% cases. Others presenting complaints were low grade fever (40%). Hemoglobin concentration at the time of diagnosis was below 5 gm/dl in 53.33% patients. In hemoglobin electrophoresis it was Hb-E ranged from 54.64 ± 13.02%, Hb-F 34.84±13.73%, Hb-A 23.32± 18.15% and Hb-A2 3.5± 70%. Radiological findings revealed gross bony changes occur in long standing cases. Enlarged cardiac shadow was found in those cases having severe anemia with heart failure. Conclusion: In countries with a high incidence of thalassemia, it is vitally important to offer prospective genetic counseling and to warn carriers about the risks of intramarriage. Nutritional and folic acid supplementation with regular blood transfusion along with iron chelation therapy is essential to improve the prognosis. TAJ 2018; 31(2): 6-11

scholarly journals Compound heterozygosity for hemoglobin D and hemoglobin E

2016 ◽  
Vol 9 (4) ◽  
pp. 214
Author(s):  
Mohammad Mizanur Rahman ◽  
Lutfunnahar Khan ◽  
Masuda Begum ◽  
Debashish Saha ◽  
Arif Ahmed Khan
Keyword(s):  
Southeast Asia ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Compound Heterozygosity ◽  
Hemoglobin E ◽  
Heterozygous Condition ◽  
Family Screening ◽  
Compound Heterozygous State

<p>We present two cases of compound heterozygous state for hemoglobin (Hb) D and HbE who reported to the hospital for fever and incidentally found moderate microcytic hypochromic anemia. Later on they were investigated by capillary hemoglobin electrophoresis. Capillary Hb electrophoresis revealed compound heterozygous state for hemoglobin D and hemoglobin E. On family screening, father of one patient turned out to be HbD trait and mother as HbE trait. Due to unavailability of parents and siblings of other patient, family screening was not possible. Compound or double heterozygous state for HbD and HbE is rare. There are only six published reported cases of such double heterozygous state for HbD and HbE in Southeast Asia. Marriage between third degree relatives, which are more common among Muslims as well as inter caste marriages, common in some states of India have resulted into this compound heterozygous condition. Such double heterozygous case is clinically silent as compared to HbE/beta thalassemia or HbD/beta thalassemia.</p>

scholarly journals Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta+-thalassemia intermedia associated with delta degree- thalassemia

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 957-961 ◽  
Author(s):  
F Baklouti ◽  
E Dorleac ◽  
L Morle ◽  
P Laselve ◽  
D Peyramond ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Low Oxygen ◽  
Hemoglobin Variant ◽  
New Variety ◽  
Whole Cells ◽  
Chain Synthesis ◽  
Low Oxygen Affinity

Hb Knossos (beta 27 (B9) Ala----Ser) is a recently discovered hemoglobin variant endowed with beta-thalassemic properties (1,2) We present the first homozygous cases. The propositus, a 19-year-old man is originally from northeast Algeria, but is unrelated to other Algerians who have hemoglobin Knossos. He has a beta+-thalassemia intermedia syndrome, including microcytic, hypochromic anemia, enlargement of the spleen, and an increase in the number of reticulocytes. The reduction of beta-chain synthesis is pronounced (alpha/non alpha:2.76). Whole cells containing Hb Knossos have a dramatically low oxygen affinity (P50:38 mm Hg). The propositus also has homozygous delta degrees-thalassemia. The chromosome carrying these mutations is characterized by the DNA haplotype I.

scholarly journals One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Methichit Wattanapanitch ◽  
Nattaya Damkham ◽  
Ponthip Potirat ◽  
Kongtana Trakarnsanga ◽  
Montira Janan ◽  
...  
Keyword(s):  
Beta Thalassemia ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
One Step

scholarly journals Hemarthrosis in hemoglobin E beta thalassemia: a rare clinical scenario

2020 ◽  
Vol 7 (10) ◽  
pp. 1582
Author(s):  
Malini Garg ◽  
Prakas K. Mandal ◽  
Prakash S. Shekhawat ◽  
Tuphan K. Dolai
Keyword(s):  
Hip Joint ◽  
Rare Case ◽  
Beta Thalassemia ◽  
Clinical Scenario ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
Beta Thalassaemia ◽  
Bilateral Knee ◽  
Joint Effusions

Hemorrhagic joint effusions are rarely seen in patients with haemoglobinopathies. Joint effusions often develop in association with deferiprone-related arthropathy in beta thalassaemia patients. Here we report a very rare case of bilateral knee and hip joint effusions in a case of hemoglobin E (HbE) beta thalassemia patient.

scholarly journals Prevalence of thalassemia and hemoglobinopathy in antenatal mothers with relation to complete hemogram and high performance liquid chromatography-a hospital based study of Eastern India

2018 ◽  
Vol 6 (3) ◽  
pp. 928
Author(s):  
Anadi Roy Chowdhury ◽  
Manas Talukdar
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Performance ◽  
Hypochromic Anemia ◽  
Reproductive Age ◽  
Deficiency Anemia ◽  
Beta Thalassemia ◽  
Hemoglobin E ◽  
Thalassemia Trait ◽  
Cell Counter

Background: Iron deficiency anemia (IDA) and Beta thalassemia (BT) are two most common causes of microcytic hypochromic anemia in our country affecting the reproductive age group. It is important to discriminate between these two entities to prevent treatment with iron of individuals with thalassemia trait as well as prevent homozygous transmission of B thalassemia trait (BTT). Aim of the study was to investigate causes of microcytic anemia in antenatal mothers and to find out the role of Cell Counter and High Performance Liquid Chromatography (HPLC) so as to screen BTT and other hemoglobinopathies.Methods: This study was done over a period of six months (May 2017 to October 2017) in the Department of Pathology in R. G. Kar Medical College. We analyzed the blood samples of all antenatal mothers attending Department of Pathology for blood tests and a complete hemogram and hemoglobin A2 (Hb A2) quantitation was done.Results: Total cases evaluated were 2200 of which 442 patients were found to have microcytic hypochromic anemia (MCV<80%, MCH<27). Rest that is 1758 was normal. Of 442 cases of microcytic hypochromic anemia, 205 were found to have IDA, 115 BTT, 112 E trait, 1 case each of Hemoglobin E disease, E-Beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH). Hemoglobinopathies like S trait and Hemoglobin J (Hb J) was found in 4 and 3 cases respectively.Conclusions: In India, Microcytic hypochromic anemia is common and may be due to IDA, BTT or other hemoglobinopathies Cell counter-based parameters and formulas, along with HPLC can be an effective method of thalassemia screening in a society. 

scholarly journals Clinical Manifestations of Inherited Abnormal Hemoglobins

Blood ◽  
1955 ◽  
Vol 10 (5) ◽  
pp. 389-404 ◽  
Author(s):  
PHILLIP STURGEON ◽  
HARVEY A. ITANO ◽  
WILLIAM R. BERGREN
Keyword(s):  
Electrophoretic Mobility ◽  
Cell Formation ◽  
Clinical Manifestations ◽  
Hypochromic Anemia ◽  
Thalassemia Major ◽  
Hemoglobin E ◽  
Hemoglobin S ◽  
Mild Anemia ◽  
Hemoglobin C ◽  
The Family

Abstract A clinical and hematologic description is presented of the family demonstrating the existence of the genetically determined hemoglobin-D originally described by Itano. The interaction of hemoglobin-D with hemoglobin-S in two members of this family has resulted in a hemolytic process and a mild anemia. Clinically, one of the patients is asymptomatic. The other has repeated painful episodes characteristic of those seen in sickle cell crises. Clinical and hematologic evaluations of two members of the family inheriting normal hemoglobin and hemoglobin-D revealed no abnormalities. The only feature of hemoglobin-D which distinguishes it from normal hemoglobin is its electrophoretic mobility which is similar to that of hemoglobin-S. Hemoglobin-D is distinguished from hemoglobin-S by a higher solubility and by a failure to sickle and from hemoglobin-C by a lack of target cell formation and a different electrophoretic mobility. Clinical, hematologic and special hemoglobin studies are presented of a family exhibiting a new abnormal hemoglobin (hemoglobin-E). Its interaction with thalassemia trait in one of its members also is described. Hemoglobin-E does not sickle; under alkaline conditions it migrates slowly at a rate comparable to hemoglobin-C, while at an acid pH it migrates at a rate similar to hemoglobin-S. The result of its interaction with thalassemia is a microcytic, hypochromic anemia clinically resembling thalassemia major of an intermediate degree of severity. The major defect appears to be in hemoglobin synthesis, although the slight persistent reticulocytosis suggests a mild hemolytic process.

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