Displaying publications 141 - 160 of 266 in total

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  1. Wong SJ, Urlings T, Seng C, Leong S, Tan BS, Tan MH
    Malays Orthop J, 2020 Mar;14(1):42-48.
    PMID: 32296481 DOI: 10.5704/MOJ.2003.007
    Introduction: The management of musculoskeletal tumours is complex and requires a multi-disciplinary approach. Preoperative embolisation can be often employed to reduce intra-operative blood loss and complication rates from surgery. We report our experience with the safety, technical success and efficacy of pre-operative embolisation in musculoskeletal tumours.

    Materials and Methods: Thirteen consecutive patients who underwent pre-operative embolisation of a musculoskeletal tumour followed by surgical intervention at our institution from May 2012 to January 2016 were enrolled into the study. Patient demographics, tumour characteristics, embolisation techniques and type of surgery were recorded. Technical success of embolisation, amount of blood loss during surgery and transfusion requirements were estimated.

    Results: There were five female and eight male patients who underwent pre-operative embolisation during the study period. The age ranged between 16 to 68 years, and the median age was 54. Technical success was achieved in all patients. Mean intra-operative blood loss was 1403ml, with a range of 150ml to 6900ml. Eight patients (62%) required intra-operative blood products of packed red blood cells and fresh frozen plasma. No major complications occurred during embolisation.

    Conclusion: Pre-operative trans-arterial embolisation is feasible and safe for a variety of large and hypervascular musculoskeletal tumours. Our small series suggests that preoperative embolisation could contribute to the reduction of the intra-operative and post-operative blood product transfusion. It should be considered as a pre-operative adjunct for major tumour resections with a high risk of bleeding. The use of the haemoglobin gap complemented the assessment of perioperative blood loss.

    Matched MeSH terms: Hemoglobins
  2. Khan A, Ul-Haq Z, Fatima S, Ahmed J, Alobaid HM, Fazid S, et al.
    Nutrients, 2023 Mar 30;15(7).
    PMID: 37049531 DOI: 10.3390/nu15071690
    Cost-effective interventions are needed to address undernutrition, particularly micronutrient deficiencies, which are common in children under the age of five in low- and middle-income countries. A community-based, non-randomized clinical trial was undertaken in the Kurram district of Khyber Pakhtunkhwa from January 2018 to June 2019, to evaluate the effect of locally produced micronutrient powder (local name: Vita-Mixe) on plasma micronutrient status, hemoglobin level, and anthropometric outcomes. Children aged 24-48 months old were recruited and allocated to the intervention and control arm of the study. The enrolled children in the intervention arm received one micronutrient powder (MNP) sachet for consumption on alternate days for 12 months. To assess the impact of the intervention on plasma levels of zinc, vitamin D, vitamin A, and hemoglobin level, blood samples were taken at baseline and after one year following the intervention. The analysis was conducted using Enzyme-Linked Immunosorbent Assay (ELISA), atomic absorption spectrometry, and an automated hematology analyzer. For the impact on growth parameters, the anthropometric assessment was performed using WHO standard guidelines. A 24 h dietary recall interview was used to assess the nutrient intake adequacy. Results showed that in the intervention arm, children had on average a 7.52 ng/mL (95% CI 5.11-9.92, p-value < 0.001) increase in the plasma level of vitamin A, 4.80 ng/mL (95% CI 1.63-7.95, p-value < 0.002) increase in vitamin D levels and 33.85 µg/dL (95% CI 24.40-43.30, p-value < 0.001) increase in the plasma zinc level, as well as a 2.0g/dL (95% CI 1.64-2.40, p-value < 0.001) increase in hemoglobin level. Statistically significant improvement was observed in the weight-for-height z-score (WHZ) (from -1.0 ± 0.88 to -0.40 ± 1.01, p < 0.001) and weight-for-age z-score (WAZ) (from -1.40 ± 0.50 to -1.05 ± 0.49, p < 0.001) in the intervention group compared to the control group. No statistically significant change was observed in the height-for-age z-score (HAZ) in the intervention group (p = 0.93). In conclusion, micronutrient powder supplementation is a cost-effective intervention to improve the micronutrient status, hemoglobin level, and growth parameters in under-five children, which can be scaled up in the existing health system to address the alarming rates of undernutrition in Pakistan and other developing countries.
    Matched MeSH terms: Hemoglobins
  3. Wong LP, George E, Tan JA
    J Community Genet, 2011 Jun;2(2):71-9.
    PMID: 22109791 DOI: 10.1007/s12687-011-0039-z
    Hemoglobin disorders which include thalassemias are the most common heritable disorders. Effective treatment is available, and these disorders can be avoided as identification of carriers is achievable using simple hematological tests. An in-depth understanding of the awareness, attitudes, perceptions, and screening reservations towards thalassemia is necessary, as Malaysia has a multi-ethnic population with different religious beliefs. A total of 13 focus group discussions (70 participants) with members of the general lay public were conducted between November 2008 and January 2009. Lack of knowledge and understanding about thalassemia leads to general confusions over differences between thalassemia carriers and thalassemia major, inheritance patterns, and the physical and psychologically impact of the disorder in affected individuals and their families. Although most of the participants have not been tested for thalassemia, a large majority expressed willingness to be screened. Views on prenatal diagnosis and termination of fetuses with thalassemia major received mixed opinions from participants with different religions and practices. Perceived stigma and discrimination attached to being a carrier emerged as a vital topic in some group discussions where disparity in the answers exhibited differences in levels of participants' literacy and ethnic origins. The two most common needs identified from the discussion were information and screening facilities. Participants' interest in knowing the severity of the disease and assessing their risk of getting the disorder may imply the health belief model as a possible means of predicting thalassemia public screening services. Findings provide valuable insights for the development of more effective educational, screening, and prenatal diagnostic services in the multi-ethnic Asian society.
    Matched MeSH terms: Hemoglobins
  4. Abdullah UYH, Ibrahim HM, Mahmud NB, Salleh MZ, Kek TL, Noorizhab MNFB, et al.
    Hemoglobin, 2019 May;43(3):182-187.
    PMID: 31298599 DOI: 10.1080/03630269.2019.1632893
    This is the first report of quadrupole time-of-flight (Q-TOF) mass spectrometric identification of the hemoglobin (Hb) subunits, α, β, δ and γ peptides, derived from enzymatic-digestion of proteins in the early unknown peaks of the cation exchange chromatography of Hb. The objectives were to identify the unknown high performance liquid chromatography (HPLC) peaks in healthy subjects and in patients with β-thalassemia (β-thal). The results demonstrate the existence of pools of free globin chains in red blood cells (RBCs). The α-, β-, δ- and γ-globin peptides were identified in the unknown HPLC peaks. The quantification and role of the free globin pool in patients with β-thal requires further investigation. Identification of all types of Hb subunits in the retention time (RT) before 1 min. suggests that altered Hbs is the nature of these fast-eluting peaks. Relevancy of thalassemias to the protein-aggregation disorders will require review of the role of free globin in the pathology of the disease.
    Matched MeSH terms: Hemoglobins
  5. Azma RZ, Ainoon O, Hafiza A, Azlin I, Noor Farisah AR, Nor Hidayati S, et al.
    Malays J Pathol, 2014 Apr;36(1):27-32.
    PMID: 24763232 MyJurnal
    Alpha (Α) thalassaemia is the most common inherited disorder in Malaysia. The clinical severity is dependant on the number of Α genes involved. Full blood count (FBC) and haemoglobin (Hb) analysis using either gel electrophoresis, high performance liquid chromatography (HPLC) or capillary zone electrophoresis (CE) are unable to detect definitively alpha thalassaemia carriers. Definitive diagnosis of Α-thalassaemias requires molecular analysis and methods of detecting both common deletional and non-deletional molecular abnormailities are easily performed in any laboratory involved in molecular diagnostics. We carried out a retrospective analysis of 1623 cases referred to our laboratory in Universiti Kebangsaan Malaysia Medical Centre (UKMMC) for the diagnosis of Α-thalassaemia during the period October 2001 to December 2012. We examined the frequency of different types of alpha gene abnormalities and their haematologic features. Molecular diagnosis was made using a combination of multiplex polymerase reaction (PCR) and real time PCR to detect deletional and non-deletional alpha genes relevant to southeast Asian population. Genetic analysis confirmed the diagnosis of Α-thalassaemias in 736 cases. Majority of the cases were Chinese (53.1%) followed by Malays (44.2%), and Indians (2.7%). The most common gene abnormality was ΑΑ/--(SEA) (64.0%) followed by ΑΑ/-Α(3.7) (19.8%), -Α(3.7) /--(SEA) (6.9%), ΑΑ/ΑΑCS (3.0%), --(SEA)/--(SEA) (1.2%), -Α(3.7)/-Α(3.7) (1.1%), ΑΑ/-Α(4.2) (0.7%), -Α(4.2)/--(SEA (0.7%), -Α(3.7)/-Α(4.2) (0.5%), ΑΑ(CS)/-- SEA) (0.4%), ΑΑ(CS)/ΑΑ(Cd59) (0.4%), ΑΑ(CS)/ΑΑ(CS) (0.4%), -Α(3.7)/ΑΑ(Cd59) (0.3%), ΑΑ/ΑΑ(Cd59) (0.1%), ΑΑ(Cd59)/ ΑΑ(IVS I-1) (0.1%), -Α(3.7)/ΑΑ(CS) (0.1%) and --(SEA) /ΑΑ(Cd59) (0.1%). This data indicates that the molecular abnormalities of Α-thalassaemia in the Malaysian population is heterogenous. Although Α-gene deletion is the most common cause, non-deletional Α-gene abnormalities are not uncommon and at least 3 different mutations exist. Establishment of rapid and easy molecular techniques is important for definitive diagnosis of alpha thalassaemia, an important prerequisite for genetic counselling to prevent its deleterious complications.
    Matched MeSH terms: Hemoglobins, Abnormal/genetics*
  6. Jamil F, Teh AH, Schadich E, Saito JA, Najimudin N, Alam M
    J. Biochem., 2014 Aug;156(2):97-106.
    PMID: 24733432 DOI: 10.1093/jb/mvu023
    A truncated haemoglobin (tHb) has been identified in an acidophilic and thermophilic methanotroph Methylacidiphilium infernorum. Hell's Gate Globin IV (HGbIV) and its related tHbs differ from all other bacterial tHbs due to their distinctively large sequence and polar distal haem pocket residues. Here we report the crystal structure of HGbIV determined at 1.96 Å resolution. The HGbIV structure has the distinctive 2/2 α-helical structure with extensions at both termini. It has a large distal site cavity in the haem pocket surrounded by four polar residues: His70(B9), His71(B10), Ser97(E11) and Trp137(G8). This cavity can bind bulky ligands such as a phosphate ion. Conformational shifts of His71(B10), Leu90(E4) and Leu93(E7) can also provide more space to accommodate larger ligands than the phosphate ion. The entrance/exit of such bulky ligands might be facilitated by positional flexibility in the CD1 loop, E helix and haem-propionate A. Therefore, the large cavity in HGbIV with polar His70(B9) and His71(B10), in contrast to the distal sites of other bacterial tHbs surrounded by non-polar residues, suggests its distinct physiological functions.
    Matched MeSH terms: Hemoglobins/chemistry*
  7. Taib IS, Budin SB, Siti Nor Ain SM, Mohamed J, Louis SR, Das S, et al.
    J Zhejiang Univ Sci B, 2009 Nov;10(11):813-9.
    PMID: 19882755 DOI: 10.1631/jzus.B0920199
    Litsea elliptica Blume leaves have been traditionally used as medicinal herbs because of its antimutagenicity, chemopreventative and insecticidal properties. In this study, the toxic effects of L. elliptica essential oil against Sprague-Dawley rat's red blood cells (RBCs) were evaluated. L. elliptica essential oil was given by oral gavage 5 times per week for 3 treated groups in the doses of 125, 250, and 500 mg/(kg body weight), respectively, and the control group received distilled water. Full blood count, RBC osmotic fragility, RBC morphological changes, and RBC membrane lipid were analyzed 28 d after the treatment. Although L. elliptica essential oil administration had significantly different effects on hemoglobin (Hb), mean cell hemoglobin concentration (MCHC), mean cell volume (MCV), and mean cell hemoglobin (MCH) in the experimental groups as compared to the control group (P<0.05), the values were still within the normal range. L. elliptica induced morphological changes of RBC into the form of echinocyte. The percentage of echinocyte increased significantly among the treated groups in a dose-response manner (P<0.001). The concentrations of RBC membrane phospholipids and cholesterol of all treated groups were significantly lower than those of control group (P<0.001). However, the RBC membrane osmotic fragility and total proteins of RBC membrane findings did not differ significantly between control and treated groups (P>0.05). It is concluded that structural changes in the RBC membrane due to L. elliptica essential oil administration did not cause severe membrane damage.
    Matched MeSH terms: Hemoglobins/metabolism
  8. Chong YM, Tan JA, Zubaidah Z, Rahimah A, Kuldip K, George E
    Med J Malaysia, 2006 Jun;61(2):217-20.
    PMID: 16898315
    Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysia, with many not knowing they carry the gene for thalassaemia. The two major forms are alpha and beta thalassaemia. An individual can co-inherit both the alpha and beta thalassaemia genes. This study determined the frequency of concurrent carriers of alpha thalassaemia in 231 beta thalassaemia carriers. Gap-PCR was done on extracted DNA of the beta thalassaemia samples to check for alpha thalassaemia 1 molecular defect. Eight (3.5%) samples were found to have concurrently inherited the alpha thalassaemia 1 (- -SEA) deletion. The significant carrier rate for alpha thalassaemia 1 indicates the need for the implementation of DNA analysis to complement thalassaemia screening in high risk populations.
    Matched MeSH terms: Hemoglobins/metabolism
  9. Sudha V, Bairy KL, Shashikiran U, Sachidananda A, Jayaprakash B, Shalini S
    Med J Malaysia, 2005 Jun;60(2):204-11.
    PMID: 16114162
    OBJECTIVE AND STUDY DESIGN: A nonrandomized open labeled clinical trial to evaluate the efficacy and tolerability of Dianex (a poly herbal formulation developed by Apex Laboratories [PVT] Chennai, Tamil Nadu, India) in type 2 diabetes mellitus was carried out during a 6-month period.
    SETTING/LOCATION: This study was conducted in TMA Pai Hospital, Udupi, South India.
    SUBJECTS: A total of 40 patients were recruited for this study. Three patients dropped out of the study leaving a total of 37 patients (11 for monotherapy and 26 for add on therapy).
    OUTCOME MEASURES: Eighteen (18) clinical variables were investigated, including liver enzymes, kidney function tests, hematologic parameters, blood glucose, and insulin and lipid profiles.
    RESULTS: at the end of 12 weeks it was found that there was a significant decrease in the level of glycated hemoglobin, fasting plasma insulin level, insulin resistance, and systolic and diastolic blood pressure. At the end of 24 weeks results were similar to those at 12 weeks. Dianex did not alter the liver function tests, hematological parameters, or kidney function tests.
    CONCLUSION: In this preliminary study, Dainex is found to be an effective adjuvant drug with either oral antidiabetic agents or insulin that can be used in the control of blood sugars in diabetic patients. Dianex is a safe drug that does not cause any clinical, hematological or biochemical alteration in major organ systems.
    Matched MeSH terms: Hemoglobins, Abnormal/metabolism
  10. El Kishawi RR, Soo KL, Abed YA, Wan Muda WA
    BMC Public Health, 2015;15:319.
    PMID: 25879619 DOI: 10.1186/s12889-015-1652-2
    Anemia is a major public health problem worldwide, with adverse consequences on child growth, development, and survival. This deficiency has affected approximately a quarter of the world population. This study aimed to determine the prevalence of anemia and the associated factors among preschool children in the Gaza Strip.
    Matched MeSH terms: Hemoglobins/analysis
  11. Shahar S, Dixon RA, Earland J
    Int J Food Sci Nutr, 1999 Nov;50(6):435-44.
    PMID: 10719584
    Undernutrition and the consumption of poor diets are prevalent among elderly people in developing countries. Recognising the importance of the early identification of individuals at high nutritional risk, this study aimed to develop a simple tool for screening. A cross-sectional study was conducted on 11 randomly selected villages among the 62 in Mersing District, Malaysia. Undernutrition was assessed using body mass index, plasma albumin and haemoglobin on 285 subjects. Dietary inadequacy (a count of nutrients falling below two-thirds of the Recommended Dietary Allowances) was examined for 337 subjects. Logistic regression analysis was performed to identify significant predictors of undernutrition and dietary inadequacy from social and health factors, and to derive appropriate indices based on these predictions. The multivariate predictors of undernutrition were 'no joint disease', 'smoker', 'no hypertension', 'depended on others for economic resource', 'respiratory disease', 'perceived weight loss' and 'chewing difficulty', with a joint sensitivity of 56% and specificity of 84%. The equivalent predictors of dietary inadequacy were 'unable to take public transport', 'loss of appetite', 'chewing difficulty', 'no regular fruit intake' and 'regularly taking less than three meals per day', with a joint sensitivity of 77% and specificity of 47%. These predictions, with minor modification to simplify operational use, led to the production of a simple screening tool. The tool can be used by public health professionals or community workers or leaders as a simple and rapid instrument to screen individual at high risk of undernutrition and/or dietary inadequacy.
    Matched MeSH terms: Hemoglobins/analysis
  12. Foo LC, Somsiah P
    Asia Pac J Public Health, 1991;5(4):302-6.
    PMID: 1844219
    The effect of parity on the hematological response to supplemental hematinics and the relationship between birth weight and Hb concentration were examined in 67 pregnant rural Kelantanese Malay women recruited at 20-24 weeks of gestation. Among initially anemic women (Hb concentration at recruitment < 110 g/l), a significant supplementation effect was observed in the lower parae (3 or less children) but not in the higher parae. Among initially nonanemic women, a progressive decline in mean Hb concentration was observed in the higher parae; in the lower parae, however, an initial fall in mean Hb concentration was followed by a rise to almost the initial level. Birth weight was inversely related to initial Hb concentration. There was no association between birth weight and final measured Hb level, parity or any of the measured maternal characteristics. These observations suggest: a) women with initially lower Hb concentration might have experienced a greater acceleration of plasma volume expansion than those with initially higher Hb level; and b) hemopoiesis might be impaired in the higher multiparae.
    Matched MeSH terms: Hemoglobins/drug effects*
  13. Ibrahim F, Ismail NA, Taib MN, Wan Abas WA
    Physiol Meas, 2004 Jun;25(3):607-15.
    PMID: 15253113 DOI: 10.1088/0967-3334/25/3/002
    This paper describes a model for predicting hemoglobin (Hb) by using bioelectrical impedance analysis (BIA) in dengue patients in the Hospital Universiti Kebangsaan Malaysia (HUKM). Bioelectrical impedance measurements were conducted on 83 (47 males and 36 females) serologically confirmed dengue fever (DF) and dengue hemorrhagic fever (DHF) patients during their hospitalization. The predictive equation for Hb was derived using multivariate analysis. We investigated all the parameters in BIA, patients' symptom and demographic data. In this developed model, four predictors (reactance (XC), sex, weight and vomiting) were found to be the best predictive factors for modeling Hb in dengue patients. However, the model can only explain approximately 42% of the variation in Hb status, thus single frequency bio-impedance stand-alone technique is insufficient to monitor Hb for the DF and DHF patients. Further investigation using multi-frequency BIA is recommended in modeling Hb to achieve the most parsimonious model.
    Matched MeSH terms: Hemoglobins/analysis*
  14. Baer A, Lie-Injo LE, Welch QB, Lewis AN
    Am J Hum Genet, 1976 Mar;28(2):179-88.
    PMID: 817597
    The jungle habitat of the Temuan aborigines harbors a variety of infectious diseases, the most notable being malaria. Our study of 15 genetic systems in the Temuan revealed substantial polymorphism and within-population genetic diversity. The polymorphisms for Hb beta, G6PD, and El are of interest in regard to genetic adaptation to malaria. Among the polymorphisms investigated we conclude that G6PD deficiency and elliptocytosis are likely to have malaria-resistant effects as evidenced by their low association with malarial parasitemia or their higher frequency in adults than in children. These findings suggest that the malarial habitat of the Temuans is livable in the long range sense for them because of the cluster of malaria-resistant alleles in their gene pool (G6PD)-, El, and possibly, but not tested here because of its low frequency, Hb beta E). The same condition probably holds for the Semai, the nearest aborigine neighbors of the Temuan (although the Semai have not been tested for malarial parasitemia and for these polymorphisms simultaneously), since the Semai have substantial Hb betaE, G6PD-, and El. The Temuan have a cultural identity system of rituals, beliefs, and certain aspects of language which effectively isolates them genetically from Malays and other nonaborigines. This system hinders the dilution of the malaria-resistant alleles of the Temuan gene pool with the malaria-susceptible alleles of the nonaborigine gene pools.
    Matched MeSH terms: Hemoglobins/metabolism
  15. Ong HC
    J Trop Med Hyg, 1974 Jan;77(1):22-6.
    PMID: 4811560
    Matched MeSH terms: Hemoglobins/analysis
  16. Lie-Injo LE, Herrera AR, Lebo RV, Hassan K, Lopez CG
    Am J Hematol, 1985 Mar;18(3):289-96.
    PMID: 2983536
    Restriction enzyme analysis of the alpha and zeta globin genes was carried out in four cases of Hb Bart's hydrops fetalis, in three patients with Hb H disease without Hb CoSp, in three patients with Hb H disease with Hb CoSp, in 47 individuals with alpha thalassemia trait, and in 47 normal individuals. All four cases of Hb Bart's hydrops fetalis resulted from deletions of alpha 1 and alpha 2 globin genes which did not extend to the psi zeta 1 and zeta 2 globin genes. The same type of deletion was observed in alpha thal1 carriers, but two newborns (one Malay and one of Chinese extraction) had a nondeletion type of alpha thal1 which was confirmed by quantitative alpha globin gene analysis. In addition, two other newborns diagnosed as alpha thal1 trait carriers (one Malay, one Chinese) were shown to have a deletion of both alpha globin genes by quantitative alpha globin gene analysis, but further testing with zeta globin gene probe failed to reveal an abnormal fragment length characteristic of an alpha globin gene deletion. We believe that this last condition is due to a large deletion which includes all alpha globin genes and all zeta globin genes on the same chromosome. On another front, Bgl II restriction analysis of all four Hb Bart's hydrops fetalis cases and the alpha thal1 trait carriers showed a 10.5-kb Bgl II restriction fragment, in the hydrops fetalis as a single band, while in the carriers this 10.5-kb fragment was accompanied by the usual normal 12.5-kb and 11.3-kb fragments. We report that this 10.5-kb fragment, previously thought to be specific for the Southeast Asian alpha thal1 gene deletion, is also common in normal individuals. Nevertheless, digestion with other enzymes can clearly differentiate the alpha thal1 and normal genotypes. We distinguish the findings in the alpha thalassemias from the extensive DNA polymorphism in the region of the alpha and zeta globin genes.
    Matched MeSH terms: Hemoglobins, Abnormal/genetics
  17. Lie-Injo LE, Ganesan J, Clegg JB, Weatherall DJ
    Blood, 1974 Feb;43(2):251-9.
    PMID: 4810076
    Matched MeSH terms: Hemoglobins, Abnormal/analysis*
  18. Dalia AM, Loh TC, Sazili AQ, Samsudin AA
    BMC Vet Res, 2020 Sep 29;16(1):365.
    PMID: 32993790 DOI: 10.1186/s12917-020-02587-x
    BACKGROUND: Several studies indicated that dietary organic selenium (Se) usually absorbed better than an inorganic source, with high retention and bioavailability. Dietary Se as an antioxidant element affects the immune system and hematological status in animals. Therefore, the aim of this study was to evaluate the effect of dietary supplementation of bacterial selenium as an organic source on hematology, immunity response, selenium retention, and gut morphology in broiler chickens.

    RESULTS: The present results revealed that supplementation of inorganic Se was associated with the lowest level of RBC, HB, and PCV with significant difference than ADS18-Se. In the starter stage, both T2 and T5 were associated with the significantly highest IgG level compared to the basal diet, while all supplemented groups showed higher IgM levels compared to the control group. In the finisher phase, all Se supplemented groups showed significant (P ˂ 0.05) increases in IgG, IgA, and IgM levels compared to T1. Birds fed bacterial-Se showed high intestinal villus height and better Se retention more than sodium selenite. The organic selenium of ADS18 had a superior action in improving Se retention compared to ADS1 and ADS2 bacterial Se.

    CONCLUSIONS: Bacterial organic Se had a beneficial effect on the villus height of small intestine led to high Se absorption and retention. Thus, it caused a better effect of Se on hematological parameters and immunity response.

    Matched MeSH terms: Hemoglobins/analysis
  19. Lie-Injo LE, Lopez CG, Lopes M
    Acta Haematol., 1971;46(2):106-20.
    PMID: 4331171 DOI: 10.1159/000208565
    A study of 23 patients with Hb H disease and their 82 relatives in 17 families showed that 2 types of this condition exist. One is associated with the presence of a small slow-moving component, which we tentatively called the X component and which was invariably present in one parent. Some siblings also had it. The other type was not associated with this component. Two patients without X component had a newborn with Bart’s haemoglobin without X component. None of the parents of 20 newborns with Hb Bart’s without the X component had the X component. It was present in only one parent of each of 2 newborns with Hb Bart’s and the X component. They are thought to represent Hb H disease in the newborn period. We suggest that at least 3 abnormal genes may lead to Hb H disease, which results when 2 of the 3 combine. Severity of clinical and haematological symptoms depends upon which abnormal gene is present and which 2 are involved in any particular combination.
    Key Words: a-Thalassaemia; Haemoglobin Bart’s; Haemoglobin H disease; Haemoglobinopathies
    Matched MeSH terms: Hemoglobins, Abnormal/analysis*
  20. Lopez CG, Lie-Injo Luan Eng
    Hum. Hered., 1971;21(2):185-91.
    PMID: 5127409
    Matched MeSH terms: Hemoglobins, Abnormal/analysis*
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