Thalassemia Reports

571 KiB

Open AccessArticle

Spontaneous Fertility in a Male Thalassemic Patient after Allogeneic Hematopoietic Cell Transplantation

by Nicoletta Iacovidou, Maria Kollia, Emmeleia Nana, Theodora Boutsikou, Christos Savvidis, Antonis Kattamis, Dimitra Kyriakopoulou and Vassilis Ladis

Thalass. Rep. 2017, 7(1), 7090; https://doi.org/10.4081/thal.2017.7090 - 03 Nov 2017

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Abstract

Patients with thalassemia major who received allogeneic hematopoietic cell transplantation are at increased risk of gonadal insufficiency and reduced fertility due to the toxicity of both the transfusional iron overload and the gonadotoxic effects of drugs used in the conditioning regimen. We present [...] Read more.

Patients with thalassemia major who received allogeneic hematopoietic cell transplantation are at increased risk of gonadal insufficiency and reduced fertility due to the toxicity of both the transfusional iron overload and the gonadotoxic effects of drugs used in the conditioning regimen. We present a case of an ex-thalassemic patient with spontaneous recovery of spermatogenesis that fathered a healthy, term male neonate. Maternal hemoglobin electrophoresis was within normal limits. At the age of 9.5 years the patient underwent hematopoietic cell transplantation. The conditioning therapy included busulfan (16 mg/kg) and cyclophosphamide (200 mg/kg). No irradiation was administered. Thirty-two days after the hematopoietic cell transplantation the patient developed acute graft-versus-host disease needing long-term treatment with methylprednisolone, cyclosporine and immunoglobulin. Although consecutive semen analyses after the hematopoietic cell transplantation revealed azoospermia, the last semen analysis before conception, at the age of 33 years, was improved and normal follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone (Te) levels were detected. The current pregnancy was the result of physical conception. In this case, it seems that thalassemia major along with the respective treatment prior to- and posthematopoietic cell transplantation did not irreparably impair spermatogenesis, probably due to the pre-pubertal time frame they were implemented.
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557 KiB

Open AccessArticle

Improving Transfusion Practice in Transfusion Dependent Thalassaemia Patients

by Chathupa Wickremaarachchi, Elizabeth McGill, Annmarie Bosco and Giselee Kidson-Gerber

Thalass. Rep. 2017, 7(1), 6821; https://doi.org/10.4081/thal.2017.6821 - 05 Oct 2017

Cited by 1 | Viewed by 443

Abstract

The aim of this study was to improve current transfusion practice in transfusiondependent thalassaemia patients by determining whether safe transition from triplewashed red cells (TWRC) to leucodepleted red cells (LDRC), increasing transfusion rates, reducing the use of frusemide and creating uniform practice across [...] Read more.

The aim of this study was to improve current transfusion practice in transfusiondependent thalassaemia patients by determining whether safe transition from triplewashed red cells (TWRC) to leucodepleted red cells (LDRC), increasing transfusion rates, reducing the use of frusemide and creating uniform practice across patients is possible. In patients receiving regular transfusions (50), triple-washed red blood cells were changed to LDRC, transfusion rates were increased to 5 mL/kg/h (in line with the Cooley’s Foundation guidelines) to a maximum of 300 mL/h and frusemide was ceased. Medical review occurred at completion of the transfusion. Of the 20 patients on TWRC, 18 were transitioned to leucodepleted red cells (90%). Recurrent allergic reactions in 2 patients required re-institution of TWRC. 7 of the 8 patients on regular frusemide ceased this practice with no documented transfusion-related fluid overload. One patient refused. Of the eligible 50 patients, 20 patients (40%) were increased to the maximum transfusion rate of 300 mLs/h; 6 (12%) increased rate but refused to go to the maximum; 9 (18%) refused a change in practice and 15 (30%) were already at the maximum rate. There was only one documented transfusion reaction (palpitations) however this patient was able to tolerate a higher transfusion rate on subsequent transfusions. Thalassemia patients on TWRC were safely transitioned to LDRC. Transfusion rates were safely increased, with a calculated reduction in day-stay bed time of 17.45 h per month. This confirms a guideline of 5 mL/kg/h for transfusion-dependant thalassaemia patients with preserved cardiac function is well tolerated and may be translated to other centres worldwide.

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690 KiB

Open AccessArticle

Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome

by Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Wirawan Rasri, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee and Torpong Sanguansermsri

Thalass. Rep. 2017, 7(1), 6620; https://doi.org/10.4081/thal.2017.6620 - 02 Oct 2017

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Abstract

We propose a fast-track strategy [direct blood DNA analysis using a quantitative real-time polymerase chain reaction (PCR) technique] for the early risk detection and prenatal diagnosis of α(0)-thalassemia (SEA and Thai deletion). Blood DNA samples were obtained from a volunteer group of 1235 [...] Read more.

We propose a fast-track strategy [direct blood DNA analysis using a quantitative real-time polymerase chain reaction (PCR) technique] for the early risk detection and prenatal diagnosis of α(0)-thalassemia (SEA and Thai deletion). Blood DNA samples were obtained from a volunteer group of 1235 ANC couples. They were assessed using quantitative real-time PCR to detect carriers of α(0)-thalassemia (SEA and Thai deletion). At-risk couples were identified, and further prenatal diagnosis by amniocentesis was implemented. Fetal DNA was isolated from the amniotic cells and characterized by quantitative real-time PCR to detect the α(0)-thalassemia mutation, which was reconfirmed using the droplet digital PCR method. Fifteen at-risk couples were identified. The timing of prenatal diagnosis was appropriate for all couples and four of the fetuses were diagnosed with Bart’s hydrops fetalis. The results were compatible with those calculated using the Hardy-Weinberg equation for a recessively inherited single gene disorder. The conclusion was that the fast-track strategy could shorten screening policy timelines, promoting early risk detection for couples and early prenatal diagnosis. The fast-track strategy might be beneficial for the prevention of hemoglobin Bart’s hydrops fetalis syndrome.
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491 KiB

Open AccessCorrection

Errata Corrige, Thalassemia Reports 2017; 7:6392

by Editorial Office

Thalass. Rep. 2017, 7(1), 7024; https://doi.org/10.4081/thal.2017.7024 - 30 Aug 2017

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Abstract

Referring to the article [...] Full article

2079 KiB

Open AccessArticle

Fertility Assessment in Thalassemic Men

by Shahla Ansari, Azadeh Kiumarsi, Azita Azarkeivan, Mohammad Mahdi Allameh, Davood Amir kashani and Maryam Razaghi Azar

Thalass. Rep. 2017, 7(1), 6362; https://doi.org/10.4081/thal.2017.6362 - 13 Jul 2017

Cited by 3 | Viewed by 1030

Abstract

Male infertility in β-thalassemia patients is typically considered to be the consequence of iron deposition in the endocrine glands. Adult male patients with β-thalassemia, on regular blood transfusions, are prone to developing acquired hypogonadism. The aim of this study was to evaluate the [...] Read more.

Male infertility in β-thalassemia patients is typically considered to be the consequence of iron deposition in the endocrine glands. Adult male patients with β-thalassemia, on regular blood transfusions, are prone to developing acquired hypogonadism. The aim of this study was to evaluate the fertility indicators in male patients with β-thalassemia major and intermedia. In this study we evaluated testicular volume, semen parameters and serum FSH, LH, and Testosterone concentrations in 62 male patients in reproductive age, with major and intermedia thalassemia, at a tertiary care hospital in Tehran, Iran. The range of serum ferritin level in our patients was from 182 to 11053 ng/mL (mean 2067 ng/mL). The mean concentration of sperm was 61.04 million per milliliter. The mean volume of right and left testes was 11.4 cc and 11.7 cc, respectively. Those patients who had lower testicular volumes significantly had lower sperm concentration, lower percents of motile and also lower percents of normal morphologic sperms (p = 0.04). The frequency of hypogonadism was significantly higher in patients whose testicular volume was lower (p = 0.02). Hypogonadism and hypothyroidism were seen in 22.6% and 17.7% of patients, respectively. Patients with hypogonadism had significantly lower ejaculate volume, lower sperm concentration, lower percents of motile and progressively motile sperms and also lower percents of normal morphologic sperms (p = 0.001). This study suggests that in thalassemic men, concentrations of serum testosterone, LH, FSH has significant correlation with sperm parameters and testicular volume.

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555 KiB

Open AccessArticle

Spectrum of Types of Thalassemias and Hemoglobinopathies: Study in a Tertiary Level Children Hospital in Bangladesh

by Waqar A. Khan, Bilquis Banu, Salma Sadiya and Golam Sarwardi

Thalass. Rep. 2017, 7(1), 6354; https://doi.org/10.4081/thal.2017.6354 - 29 May 2017

Cited by 2 | Viewed by 548

Abstract

Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi populations. A total of 4813 samples [...] Read more.

Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi populations. A total of 4813 samples were analyzed for hemoglobin disorders out of which 2308 (49.95%) showed abnormalities. The samples were analyzed by Bio Rad D 10 Analyzer in 3914 (81.32%) cases, BIORAD VARIANTβ thalassemia short program using the principle of high performance liquid chromatography in 474 (9.85%) cases and by CAPILLARYS 2 FLEX PIERCING utilizing capillary electrophoresis in 425 (8.83%) cases. The samples were analyzed in the Department of Biochemistry and Molecular Biology of Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh. The common hemoglobin disorders seen were β trait 863 (17.94%), Hb E trait 601 (12.50%), Hb E β thalassemia 524 (10.87%), β thalassemia major 192 (4.00 %), Hb E disease 99 (2.05%). Other Hb abnormalities detected were Hb D trait 17 (0.35%), Sickle cell trait 4 (0.08%), hereditary persistence of fetal hemoglobin (HPFH) 2 (0.04%), and Hb Lepore, δ β thalassemia, sickle cell β thalassemia, Sickle cell disease, compound heterozygote for HbE+D and Hb Q band one case each (0.02%).

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637 KiB

Open AccessArticle

Granulocyte–Colony Stimulating Factor plus Plerixafor in Patients with β-thalassemia Major Results in the Effective Mobilization of Primitive CD34+ Cells with Specific Gene Expression Profile

by Elena Baiamonte, Rita Barone, Flavia Contino, Rosalia Di Stefano, Anna Marfia, Aldo Filosa, Emanuela D'Angelo, Salvatore Feo, Santina Acuto and Aurelio Maggio

Thalass. Rep. 2017, 7(1), 6392; https://doi.org/10.4081/thal.2017.6392 - 26 May 2017

Cited by 2 | Viewed by 554

Abstract

Successful gene therapy for β-thalassemia requires optimal numbers of autologous gene-transduced hematopoietic stem and progenitor cells (HSPCs) with high repopulating capacity. Previous studies suggested superior mobilization in these patients by the combination of granulocyte–colony stimulating factor (G-CSF) plus plerixafor over single agents. We [...] Read more.

Successful gene therapy for β-thalassemia requires optimal numbers of autologous gene-transduced hematopoietic stem and progenitor cells (HSPCs) with high repopulating capacity. Previous studies suggested superior mobilization in these patients by the combination of granulocyte–colony stimulating factor (G-CSF) plus plerixafor over single agents. We mobilized four adult patients using G-CSF+plerixafor to assess the intra-individual variation of the circulating CD34+ cells number and subtypes preand post-plerixafor administration. The procedure was well-tolerated and the target cell dose of ≥8 × 10⁶ CD34+ cells/kg was achieved in three of them with one apheresis procedure. The addition of plerixafor unanimously increased the number of circulating CD34+ cells, and the frequency of the most primitive CD34+ subtypes: CD34+/38− and CD34+/133+/38− as well as the in vitro clonogenic potency. Microarray analyses of CD34+ cells purified from the leukapheresis of one patient mobilized twice, with G-CSF and with G-CSF+plerixafor, highlighted in G-CSF+plerixafor-mobilized CD34+ cells, higher levels of expression genes involved in HSPC motility, homing, and cell cycles. In conclusion, G-CSF+plerixafor in β-thalassemia patients mobilizes optimal numbers of HSPCs with characteristics that suggest high capacity of engraftment after transplantation.
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Open AccessCase Report

Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression

by Beverley M. Pullon and Stephen O. Brennan

Thalass. Rep. 2017, 7(1), 6504; https://doi.org/10.4081/thal.2017.6504 - 24 May 2017

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Abstract

We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology. We verified the variant was mildly unstable by showing it was greatly enriched in isopropanol precipitates. This minor instability [...] Read more.

We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology. We verified the variant was mildly unstable by showing it was greatly enriched in isopropanol precipitates. This minor instability accounts for the slightly decreased expression of the new β chain. The variant was picked up as an interfering component on HbA1c testing using cation exchange high performance liquid chromatography (HPLC). However, this may be an advantage in detecting electrophoretically silent variants. Furthermore, this report also highlights the importance of uneven or sloping baselines on HPLC, which could reflect the presence of a variant hemoglobin even in the presence of normal electrophoresis and full blood count.
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527 KiB

Open AccessCase Report

No Transfusion is the Best Transfusion: A Rare Case

by Dibyajyoti Sahoo, Smita Mahapatra, Rajeev Kumar Nayak and Debasish Mishra

Thalass. Rep. 2017, 7(1), 6174; https://doi.org/10.4081/thal.2017.6174 - 06 Apr 2017

Cited by 1 | Viewed by 443

Abstract

Presence of antibodies against red cell antigens remains a major problem in thalassemia patients. β-thalassemia major patients do commonly suffer from alloimmunization, which is rarely seen in thalassemia intermedia patients. Association of multiple antibodies and antibody against high frequency blood group antigen further [...] Read more.

Presence of antibodies against red cell antigens remains a major problem in thalassemia patients. β-thalassemia major patients do commonly suffer from alloimmunization, which is rarely seen in thalassemia intermedia patients. Association of multiple antibodies and antibody against high frequency blood group antigen further complicates the transfusion therapy. Advance immunohematological tests like adsorption, elution, and phenotyping are necessary along with antibody screening and identification. We present a case about a 25-year male thalassemia intermedia patient, whose blood sample when crossmatched found incompatible with more than 100 units of packed red blood cells. Various tests like direct and indirect antiglobulin (Coombs) tests, 3-cell panel, 4-cell panel, 10-, 11-, 16-cell panels, adsorption, elution, minor phenotyping were done to resolve the case. We found multiple alloantibodies with no autoantibody. The present case emphasizes on importance of minor phenotyping before first transfusion in all multitransfused patients, importance of immunohematological tests in resolving blood incompatibility and our experience of dealing high frequency antigen.
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650 KiB

Open AccessCase Report

Incidental Detection of a Rare Hemoglobin Variant (Hemoglobin N Seattle) Leading to Undetectable Levels of HbA1c in a Diabetic Female: A Case Report

by Sarita Pradhan, Sima Chauhan and Priyanka Samal

Thalass. Rep. 2017, 7(1), 5860; https://doi.org/10.4081/thal.2017.5860 - 26 Jan 2017

Cited by 1 | Viewed by 462

Abstract

Glycosylated hemoglobin (GHb) is routinely used to monitor glycemic control over past 2–3 months in diabetics. As per the recommendations of the American Association of Clinical Endocrinologist, 2007 values should be maintained below 7% to prevent the risk of chronic complications. We report [...] Read more.

Glycosylated hemoglobin (GHb) is routinely used to monitor glycemic control over past 2–3 months in diabetics. As per the recommendations of the American Association of Clinical Endocrinologist, 2007 values should be maintained below 7% to prevent the risk of chronic complications. We report a case of a 55-year old female patient with spuriously low HbA1c values by high-performance liquid chromatography. Suspecting the presence of any abnormal hemoglobin, capillary zone electrophoresis was done which identified the presence of Hb variant corresponding to -Hb N Seattle. Our case highlights that clinical laboratories should be aware of limitations of their HbA1c assay methods as well as rule out any possible interfering Hb variants. Full article

574 KiB

Open AccessArticle

Alpha Hemoglobinophaties in Rosario, Argentina

by Mara Jorgelina Ojeda, Susana Mabel Perez, Arianna Flavia Pratti, Karina Lucrecia Calvo, Mariana Paula Raviola, María Eda Voss, Gladis Marcela Williams, Nélida Inés Noguera, María Magdalena Carbonell, Mónica Teresita Aixalá and Irma Margarita Bragós

Thalass. Rep. 2017, 7(1), 5655; https://doi.org/10.4081/thal.2017.5655 - 28 Dec 2016

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Abstract

Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated [...] Read more.

Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (<85 fL), low MCH (<27 dg), normal HbA2 (≤3.5%) and transferrin saturation of >15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.
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Thalass. Rep., Volume 7, Issue 1 (December 2017) – 11 articles

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