Compound heterozygotes of Hb Constant Spring and Hb Stanleyville II in Hb E/β0-thalassemia

The aim of this retrospective observational study was to observe the pattern and frequency of haematological disorders among the patients attending in the specialized Haematology outpatient Department (HOPD) in Bangabandhu Sheikh Mujib Medical University. Consecutive 201 patients over the period of one year were enrolled. Their age ranged from 01 to 72 years with a mean age of 36.76 years. Most of the patients (34.3%) were in between the ages of 31 to 45 years followed by 16 to 30 years (27.9%). Male to female ratio was 0.65. Iron deficiency anaemia is the most common (24.9%) followed by chronic myeloid leukaemia (11.9%), Hb E beta thalassaemia (9.5%), idiopathic thrombocytopenic purpura (9.5%), beta thalassaemia trait (7.0%), Hb E trait (5.5 %), aplastic anaemia (5.0%), multiple myeloma (3.5%), acute lymphoblastic leukaemia (3.0%). Acute myeloid leukaemia, autoimmune haemolytic anaemia, chronic lymphocytic leukaemia, anaemia of chronic disease, non-Hodgkin lymphoma, polycythaemia, beta thalassemia major and alpha thalassemia was 2.5%, 2.5%, 2.0%, 1.5%, 1.5%, 1.5%, 1.0% and 1.0%, respectively. In the present study, we observed that iron deficiency anaemia the most common non-malignant disease and chronic myeloid leukaemia is the common haematological malignancy.

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Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery

Cardiovascular & Haematological Disorders - Drug Targets ◽

10.2174/1871529x19666190308114842 ◽

2019 ◽

Vol 19 (3) ◽

pp. 233-238

Author(s):

Antonio Girolami ◽

Elisabetta Cosi ◽

Silvia Ferrari ◽

Bruno Girolami ◽

Maria L. Randi

Keyword(s):

Replacement Therapy ◽

Thrombotic Event ◽

Factor Vii ◽

Compound Heterozygous ◽

Activity Levels ◽

High Prevalence ◽

Molecular Studies ◽

Tissue Thromboplastin ◽

The Difference ◽

Compound Heterozygotes

Objective: To investigate the prevalence of thrombotic events among patients with proven or highly probable homozygosis for the Arg304Gln (Factor VII Padua) defect or compound heterozygosis containing the Arg304Gln mutation. Methods: Homozygotes and compound heterozygotes proven by molecular studies to have the Arg304Gln mutation were gathered from personal files and from two PubMed searches. In addition, patients with probable homozygosis on the basis of clotting tests (discrepancies among Factor VII activity levels according to the tissue thromboplastin used) were also gathered. Results: 30 proven homozygotes and 17 probable ones were gathered together with 8 compound heterozygotes. In the latter use, the associated mutation was Cys135Arg (twice), Gly180Arg, Arg304Trp, Arg315Trp, His348Gln, Gly365Cys. The prevalence of venous thrombotic events was 16.6, 11.8 and 11.1 percent, respectively for the three groups of patients. Heterozygotes showed no thrombotic event. The difference for proven homozygotes was statistically significant, while for the other groups only a trend was present. Conclusion: proven homozygous or compound heterozygous patients with the Arg304Gln mutation showed a higher than expected incidence of thrombotic events. The same is true for probable cases gathered only on the basis of clotting tests. These patients, because of their frequent lack of bleeding and for their relatively high prevalence of thrombosis should probably receive only limited replacement therapy in case of surgical procedures.

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Genetic Analysis of Candidate Modifier Polymorphisms in Hb E-β0-Thalassemia Patients

Annals of the New York Academy of Sciences ◽

10.1196/annals.1345.066 ◽

2005 ◽

Vol 1054 (1) ◽

pp. 433-438 ◽

Cited By ~ 14

Author(s):

ORAPAN SRIPICHAI ◽

JOHANNA WHITACRE ◽

THONGPERM MUNKONGDEE ◽

CHUTIMA KUMKHAEK ◽

WATTANAN MAKARASARA ◽

...

Keyword(s):

Genetic Analysis ◽

Hb E

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Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations

British Journal of Haematology ◽

10.1046/j.1365-2141.1996.d01-1726.x ◽

1996 ◽

Vol 93 (4) ◽

pp. 813-816 ◽

Cited By ~ 20

Author(s):

I. DOKAL ◽

A. CHASE ◽

N. V. MORGAN ◽

S. COULTHARD ◽

G. HALL ◽

...

Keyword(s):

Complementation Group ◽

Compound Heterozygotes

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Curcuminoids supplementation ameliorates iron overload, oxidative stress, hypercoagulability, and inflammation in non-transfusion-dependent β-thalassemia/Hb E patients

Annals of Hematology ◽

10.1007/s00277-020-04379-7 ◽

2021 ◽

Author(s):

Suneerat Hatairaktham ◽

Patarabutr Masaratana ◽

Chattree Hantaweepant ◽

Chatchawan Srisawat ◽

Vorapan Sirivatanauksorn ◽

...

Keyword(s):

Oxidative Stress ◽

Iron Overload ◽

Hb E

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IS HEMOGLOBIN E GENE WIDELY SPREAD IN THE STATE OF MADHYA PRADESH IN CENTRAL INDIA? EVIDENCE FROM FIVE TYPICAL FAMILIES

Mediterranean Journal of Hematology and Infectious Diseases ◽

10.4084/mjhid.2014.060 ◽

2014 ◽

Vol 6 (1) ◽

pp. e2014060 ◽

Cited By ~ 1

Author(s):

R S Balgir

Keyword(s):

Sickle Cell ◽

Clinical Manifestations ◽

Central India ◽

Madhya Pradesh ◽

Red Cell ◽

Hemoglobin E ◽

Vulnerable People ◽

Hb E ◽

Double Heterozygosity ◽

First Time

Background: Red cell inherited hemoglobin anomalies are commonly encountered in the central region of India. These cause a public health concern due to high degree of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people. Purpose: To report five typical families of hemoglobin E disorders identified for the first time in the state of Madhya Pradesh from central India. Methods: Out of a total of 445 couples/families (excluding the present study) with 1526 persons (848 males and 678 females) referred from a tertiary hospital in central India for investigations of anemia/hemoglobinopathies during the period from March 2010 to February 2014, we came across five typical rare couples/families of hemoglobin E disorders worthy of detailed investigations. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time. Results: For the first time, we have encountered nine cases of heterozygous hemoglobin E trait, two members with hemoglobin E-β-thalassemia (double heterozygosity), two cases of sickle cell-hemoglobin E disease (double heterozygosity), and none with homozygous hemoglobin E. Cases of hemoglobin E trait, hemoglobin E-β-thalassemia, sickle cell-β-thalassemia and sickle cell-E disease showed moderate to severe anemia, and target cells, and reduced values of red cell indices like RBC, Hb level, HCT, MCV, MCH and MCHC, representing abnormal hematological profile and clinical manifestations before blood transfusion. Conclusions: Double heterozygosity for hemoglobinopathies such as occurrence of β-thalassemia mutation with structurally abnormal hemoglobins (Hb S and Hb E) is a rare entity, but occurs with severe clinical manifestations only in those areas or communities where these are highly prevalent, testifying the migrations and genetic admixture. Distribution of hemoglobin E and β-thalassemia in different districts of Madhya Pradesh indicates that abnormal Hb E gene has wide spread and needs prevention for the rehabilitation of vulnerable people in central India.

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