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
This paper evaluates the practice of fresh frozen plasma (FFP) transfusion at the University Hospital, Kuala Lumpur, and analyses its usage by the various clinical departments. The aim of this study is to identify where it is inappropriately used and the clinical indications in which such misuse is common. A retrospective analysis of the blood bank request forms and work sheets during a 6-month period between January 1998 and June 1998 formed the basis of this study. Overall, 40% of 2665 units transfused were considered appropriate. However, out of the 931 episodes of FFP transfusions only 31% were for appropriate indications. The average FFP requirement when used for appropriate indication was about 4 units per episode, whereas for inappropriate indication it was 2.5 units per episode. Inappropriate use in terms of the number of units was highest by the surgical services (68%) and Orthopaedics (64%), while the Department of Paediatrics had the lowest incidence of inappropriate use (40%). When Paediatrics was used as the benchmark, the incidence of inappropriate use by other departments was significantly higher (p < 0.01). As for FFP usage in common clinical indications, there was a high incidence of inappropriate use in burns (82%), perioperative period (73%), cardiac surgery (68%), massive bleeding (62%) and trauma (60%). The findings in this study, specifically the use of FFP for volume support in trauma, massive bleeding and burns, routine requests without identified indication in cardiac bypass surgery, and prophylactic use in the perioperative period can be the basis for recommendations to minimize the inappropriate use of FFP in the future.
Although Malaysian Chinese share an origin with the mainland Chinese, their evolution has been influenced by intermarriages. With a gene such as CYP2D6, which is highly polymorphic, it is expected that the Malaysian Chinese would exhibit a polymorphism profile different from those of the Chinese populations in other geographical locations.
Provision of quality care, service and blood products to patients while containing costs and the amount of blood used should be the aim of every blood bank. Therefore a prospective audit was carried out over three months to determine how efficiently blood was being used in elective surgery in the University Hospital, Kuala Lumpur. Every case with blood crossmatched was monitored to determine the amount transfused and the posttransfusion haemoglobin level. Overcrossmatching of varying degrees was noted in almost all surgical procedures and overtransfusion in 45.5% of patients transfused. The rate of case postponement was 18.1%. These indicate inefficient utilization of blood and other resources. The transfusion index (TI) and range of units transfused were calculated for each procedure. They can be used as indicators of blood requirement and potential severity of hemorrhage. Suggestions to improve efficiency of blood utilization include the introduction and ongoing monitoring of guidelines on crossmatching and transfusion based on the data obtained here, by the hospital blood transfusion committee; the "group, screen and hold" practice for surgical procedures with high crossmatch transfusion ratios, low transfusion indices and a small range of units transfused could also be adopted.
A T III values in patients undergoing surgery were found to be lower post-operatively but the fall in value was not significant while women on oral contraceptives were found to have similar AT III values as that of women not on oral contraceptives. The observed values are discussed.
Hepatitis B virus (HBV) DNA in the serum of 31 patients with histologically confirmed primary hepatocellular carcinoma (PHC) from Malaysia and Indonesia was quantitated by densitometric scanning of autoradiograms obtained by Southern blot DNA hybridization, after electrophoresis using a 32P DNA cloned into plasmid pBR325 as a probe. This quantitation after electrophoresis is more informative than the usual spot hybridization technique. Five of the 31 sera were positive for HBV DNA. Levels ranged between 1.36 pq and 143.18 pq per ml of serum, and the levels of HBsAg, anti-HBs, anti-HBc, HBeAg and anti-HBe in the serum were serologically determined. All five sera positive for HBV DNA were also positive for HBsAg. Three of the five positive for HBV DNA were positive for HBeAg and negative for anti-HBe. Two of the sera positive for HBV DNA were negative for HBeAg but positive for anti-HBe. All sera negative for HBV DNA were also negative for HBeAg. Many sera which were negative for HBV DNA and HBeAg were positive for HBsAg. Of the 31 sera from PHC patients, 23 had at least one HBV marker positive (74.2%).
In a study of Malaysians of different racial groups, 1,510 sera (908 from Malays, 371 from Chinese and 231 from Indians) were identified for their protease inhibitor (Pi) types. The gene frequencies for the alleles PiM, PiS and PiX in Malays were, respectively, 0.979, 0.015, and 0.007. In Chinese, the frequencies were 0.981, 0.019 and 0.000, and in Indians they were 0.976, 0.24, and 0.000. It is interesting that the usually rare PiX type is found in appreciable frequency in the Malays. Two different types with unusual behavior and obscure origin were also found.
The prevalence of coinfection, superinfection and chronic infection with the hepatitis delta virus (HDV) was studied in 324 hepatitis B surface antigen (HBsAg)-positive Malaysians. Of these, 10.0% (5/50) had coinfection, 5.7% (11/194) had superinfection, but none of the 80 patients with chronic liver disease (CLD) or primary hepatocellular carcinoma (PHC) had chronic infection with HDV. The overall HDV infection was 4.9% (16/324). One of the coinfection cases acquired the HDV infection as early as 1982. HDV superinfection was detected mainly among IV drug abusers (20% or 7/35) and promiscuous males and females (13.6% or 3/22). They were all asymptomatic. Only 0.8% (1/125) apparently healthy blood donors was infected with HDV. None of the 12 multi-transfused patients examined were positive. Malaysia is the only Southeast Asian country examined so far in which HDV infection was detected. The reason could be that the IV drug abusers and the sexually promiscuous groups missed being examined in the other countries. Comparing the HDV infection rates in 4 categories of infected Malaysians (viz. acute hepatitis B patients, IV drug abusers, blood donors and CLD patients) with those of other countries, it was noted that the Malaysian rates were similar to the lowest in the range of prevalence rates of each category in the latter group. The rate of coinfection in a preliminary study in 1982-84 (9.0% or 1/11) was not very different from that obtained to date (10.0% or 5/50).(ABSTRACT TRUNCATED AT 250 WORDS)
The infectiousness with regard to HBV Infection of staff and patients in various units of the General Hospital, Kuala Lumpur
was assessed. It was found that all units, with the exception of the obstetric unit, were equally high risk areas. At least 50% of the patients in all these units had one or more of the markers. Among the medical staff, the anaesthetists had the highest
incidence of HBV markers (100%) while medical officers who had worked for three years or more were more likely to have to
have the HBV markers. The degree of infectiousness of the nurses In HDU and ICU/OT was found to be similar.
An abnormal, fast-moving 5'-nucleotide phosphodiesterase isozyme was found in 90.0% of 20 Malaysian patients with primary hepatoma and in 23.5% of 391 Malaysian patients with various malignant diseases; it was also discovered in 42.9% of 14 Malaysian and American patients with clinically active hepatitis B infection; in 16.7% of 18 healthy American blood bank donors who were positive for hepatitis B surface antigen (HBsAg); in 13.9% of 287 healthy Malaysian blood bank donors, some positive for HBsAg; and in none of 160 healthy American donors who were negative for HBsAg. A correlation of this abnormal isozyme with hepatoma and with infectious hepatitis B is clearly evident.
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.
Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for Amy2. Three types of variants were observed for Amy1, one type for Amy2. Only Indians were found to be polymorphic for Amy1. Two GOTs 2-1 and three GOTm 2-1 variants were found among 281 Chinese while three GOTm 2-1 variants were found among 311 Malays. Malaysian Malays, Chinese, and Indians were found to be polymorphic for Set-1 and PGM3. The gene frequencies in Malays are Set-1F=0.601 +/- 0.021, Set-1S = 0.399 +/- 0.021; PGM13 = 0.788 +/- 0.020, PGM23 = 0.212 +/- 0.020; in Chinese Set-1F = 0.497 +/- 0.028, Set-1S = 0.503 +/- 0.028; PGM13 = 0.745 +/- 0.24, PGM23 = 0.255 +/- 0.024; in Indians, Set-1F = 0.449 +/- 0.031, Set-1S = 0.551 +/- 0.031; PGM13 = 0.755 +/- 0.029, PGM23 = 0.245 +/- 0.029.
The importance of self-care to improve health and social well-being is well recognised. Nevertheless, there remains a need to encourage people to better understand how their body works, and how to keep it healthy. Because of its important role, part of this understanding should be based on why the immune system must be supported. This highly complex system is essential for defending against pathogens, but also for maintaining health throughout the body by preserving homeostasis and integrity. Accordingly, the immune system requires active management for optimal functioning and to reduce the risk of chronic diseases. In addition to regular exercise, healthy sleeping patterns, cultivating mental resilience, adequate nutrition through healthy and diverse dietary habits is key to the daily support of immune function. Diet and the immune system are closely intertwined, and a poor diet will impair immunity and increase the risk of acute and chronic diseases. To help elucidate the roles of primary healthcare providers in supporting individuals to engage in self-care, an international group of experts reviewed the evidence for the roles of the immune system in maintaining health and for nutrition in daily immune support, and discussed implications for population health and clinical practice.